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dbVar

Database of genomic structural variation

nsv3414407

Organism: Homo sapiens

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

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:7,852

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: 436 SVs from 67 studies. See in: genome view

Submitted genomic154,600,193-154,608,044

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3414407	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	154,600,193	154,608,044
nsv3414407	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	154,391,903	154,399,754

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14753692	deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14753888	deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14756039	deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14758498	deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14758844	deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14762671	deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14763808	deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14764358	deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14753692	Submitted genomic		NC_000007.14:g.154 600193_154608044de l	GRCh38 (hg38)		NC_000007.14	Chr7	154,600,193	154,608,044
nssv14753888	Submitted genomic		NC_000007.14:g.154 600193_154608044de l	GRCh38 (hg38)		NC_000007.14	Chr7	154,600,193	154,608,044
nssv14756039	Submitted genomic		NC_000007.14:g.154 600193_154608044de l	GRCh38 (hg38)		NC_000007.14	Chr7	154,600,193	154,608,044
nssv14758498	Submitted genomic		NC_000007.14:g.154 600193_154608044de l	GRCh38 (hg38)		NC_000007.14	Chr7	154,600,193	154,608,044
nssv14758844	Submitted genomic		NC_000007.14:g.154 600193_154608044de l	GRCh38 (hg38)		NC_000007.14	Chr7	154,600,193	154,608,044
nssv14762671	Submitted genomic		NC_000007.14:g.154 600193_154608044de l	GRCh38 (hg38)		NC_000007.14	Chr7	154,600,193	154,608,044
nssv14763808	Submitted genomic		NC_000007.14:g.154 600193_154608044de l	GRCh38 (hg38)		NC_000007.14	Chr7	154,600,193	154,608,044
nssv14764358	Submitted genomic		NC_000007.14:g.154 600193_154608044de l	GRCh38 (hg38)		NC_000007.14	Chr7	154,600,193	154,608,044
nssv14753692	Remapped	Perfect	NC_000007.13:g.154 391903_154399754de lNC_000007.13:g.15 4391903_154399754d el	GRCh37.p13	First Pass	NC_000007.13	Chr7	154,391,903	154,399,754
nssv14753888	Remapped	Perfect	NC_000007.13:g.154 391903_154399754de lNC_000007.13:g.15 4391903_154399754d el	GRCh37.p13	First Pass	NC_000007.13	Chr7	154,391,903	154,399,754
nssv14756039	Remapped	Perfect	NC_000007.13:g.154 391903_154399754de lNC_000007.13:g.15 4391903_154399754d el	GRCh37.p13	First Pass	NC_000007.13	Chr7	154,391,903	154,399,754
nssv14758498	Remapped	Perfect	NC_000007.13:g.154 391903_154399754de lNC_000007.13:g.15 4391903_154399754d el	GRCh37.p13	First Pass	NC_000007.13	Chr7	154,391,903	154,399,754
nssv14758844	Remapped	Perfect	NC_000007.13:g.154 391903_154399754de lNC_000007.13:g.15 4391903_154399754d el	GRCh37.p13	First Pass	NC_000007.13	Chr7	154,391,903	154,399,754
nssv14762671	Remapped	Perfect	NC_000007.13:g.154 391903_154399754de lNC_000007.13:g.15 4391903_154399754d el	GRCh37.p13	First Pass	NC_000007.13	Chr7	154,391,903	154,399,754
nssv14763808	Remapped	Perfect	NC_000007.13:g.154 391903_154399754de lNC_000007.13:g.15 4391903_154399754d el	GRCh37.p13	First Pass	NC_000007.13	Chr7	154,391,903	154,399,754
nssv14764358	Remapped	Perfect	NC_000007.13:g.154 391903_154399754de lNC_000007.13:g.15 4391903_154399754d el	GRCh37.p13	First Pass	NC_000007.13	Chr7	154,391,903	154,399,754

Showing 16 of 24

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

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