nsv3379727

Organism: Homo sapiens

Study:nstd162 (Audano et al. 2019)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:13
Validation:Not tested
Clinical Assertions: No
Region Size:8,487

Publication(s):Audano et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 496 SVs from 81 studies. See in: genome view

Submitted genomic172,503,882-172,512,368

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3379727	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	172,503,882	172,512,368
nsv3379727	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	173,425,033	173,433,519

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14694828	deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14696753	deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14696990	deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14697630	deletion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134
nssv14699290	deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14699438	deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563
nssv14702512	deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14704420	deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14704941	deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14705948	deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14708342	deletion	SAMN06885952	Sequencing	de novo and local sequence assembly	28,070
nssv14708571	deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14708890	deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14694828	Submitted genomic		NC_000004.12:g.172 503882_172512368de l	GRCh38 (hg38)		NC_000004.12	Chr4	172,503,882	172,512,368
nssv14696753	Submitted genomic		NC_000004.12:g.172 503882_172512368de l	GRCh38 (hg38)		NC_000004.12	Chr4	172,503,882	172,512,368
nssv14696990	Submitted genomic		NC_000004.12:g.172 503882_172512368de l	GRCh38 (hg38)		NC_000004.12	Chr4	172,503,882	172,512,368
nssv14697630	Submitted genomic		NC_000004.12:g.172 503882_172512368de l	GRCh38 (hg38)		NC_000004.12	Chr4	172,503,882	172,512,368
nssv14699290	Submitted genomic		NC_000004.12:g.172 503882_172512368de l	GRCh38 (hg38)		NC_000004.12	Chr4	172,503,882	172,512,368
nssv14699438	Submitted genomic		NC_000004.12:g.172 503882_172512368de l	GRCh38 (hg38)		NC_000004.12	Chr4	172,503,882	172,512,368
nssv14702512	Submitted genomic		NC_000004.12:g.172 503882_172512368de l	GRCh38 (hg38)		NC_000004.12	Chr4	172,503,882	172,512,368
nssv14704420	Submitted genomic		NC_000004.12:g.172 503882_172512368de l	GRCh38 (hg38)		NC_000004.12	Chr4	172,503,882	172,512,368
nssv14704941	Submitted genomic		NC_000004.12:g.172 503882_172512368de l	GRCh38 (hg38)		NC_000004.12	Chr4	172,503,882	172,512,368
nssv14705948	Submitted genomic		NC_000004.12:g.172 503882_172512368de l	GRCh38 (hg38)		NC_000004.12	Chr4	172,503,882	172,512,368
nssv14708342	Submitted genomic		NC_000004.12:g.172 503882_172512368de l	GRCh38 (hg38)		NC_000004.12	Chr4	172,503,882	172,512,368
nssv14708571	Submitted genomic		NC_000004.12:g.172 503882_172512368de l	GRCh38 (hg38)		NC_000004.12	Chr4	172,503,882	172,512,368
nssv14708890	Submitted genomic		NC_000004.12:g.172 503882_172512368de l	GRCh38 (hg38)		NC_000004.12	Chr4	172,503,882	172,512,368
nssv14694828	Remapped	Perfect	NC_000004.11:g.173 425033_173433519de lNC_000004.11:g.17 3425033_173433519d el	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,425,033	173,433,519
nssv14696753	Remapped	Perfect	NC_000004.11:g.173 425033_173433519de lNC_000004.11:g.17 3425033_173433519d el	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,425,033	173,433,519
nssv14696990	Remapped	Perfect	NC_000004.11:g.173 425033_173433519de lNC_000004.11:g.17 3425033_173433519d el	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,425,033	173,433,519
nssv14697630	Remapped	Perfect	NC_000004.11:g.173 425033_173433519de lNC_000004.11:g.17 3425033_173433519d el	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,425,033	173,433,519
nssv14699290	Remapped	Perfect	NC_000004.11:g.173 425033_173433519de lNC_000004.11:g.17 3425033_173433519d el	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,425,033	173,433,519
nssv14699438	Remapped	Perfect	NC_000004.11:g.173 425033_173433519de lNC_000004.11:g.17 3425033_173433519d el	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,425,033	173,433,519
nssv14702512	Remapped	Perfect	NC_000004.11:g.173 425033_173433519de lNC_000004.11:g.17 3425033_173433519d el	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,425,033	173,433,519
nssv14704420	Remapped	Perfect	NC_000004.11:g.173 425033_173433519de lNC_000004.11:g.17 3425033_173433519d el	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,425,033	173,433,519
nssv14704941	Remapped	Perfect	NC_000004.11:g.173 425033_173433519de lNC_000004.11:g.17 3425033_173433519d el	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,425,033	173,433,519
nssv14705948	Remapped	Perfect	NC_000004.11:g.173 425033_173433519de lNC_000004.11:g.17 3425033_173433519d el	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,425,033	173,433,519
nssv14708342	Remapped	Perfect	NC_000004.11:g.173 425033_173433519de lNC_000004.11:g.17 3425033_173433519d el	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,425,033	173,433,519
nssv14708571	Remapped	Perfect	NC_000004.11:g.173 425033_173433519de lNC_000004.11:g.17 3425033_173433519d el	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,425,033	173,433,519
nssv14708890	Remapped	Perfect	NC_000004.11:g.173 425033_173433519de lNC_000004.11:g.17 3425033_173433519d el	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,425,033	173,433,519

Showing 26 of 39

dbVar

Database of genomic structural variation

nsv3379727

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant