Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3200291

Organism: Homo sapiens

Study:nstd152 (Chaisson et al. 2019)
Variant Type:copy number variation
Method Type:Optical mapping
Submitted on:GRCh38 (hg38)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:87,181

Publication(s):Chaisson 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: 522 SVs from 72 studies. See in: genome view

Submitted genomic84,594,810-84,681,990

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv3200291	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	84,594,810	84,681,990
nsv3200291	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	84,643,961	84,731,141

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14271026	deletion	SAMN00006579	Optical mapping	Optical mapping	Heterozygous	13,953
nssv14271027	deletion	SAMN00006580	Optical mapping	Optical mapping	Heterozygous	14,212
nssv14271028	deletion	SAMN00006581	Optical mapping	Optical mapping	Heterozygous	41,185
nssv14271029	deletion	SAMN00001694	Optical mapping	Optical mapping	Heterozygous	16,419
nssv14271030	deletion	SAMN00001696	Optical mapping	Optical mapping	Homozygous	45,591

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv14271026	Submitted genomic		NC_000003.12:g.(84 594810_?)_(?_84681 990)del	GRCh38 (hg38)		NC_000003.12	Chr3	84,594,810	84,681,990
nssv14271027	Submitted genomic		NC_000003.12:g.(84 594810_?)_(?_84681 990)del	GRCh38 (hg38)		NC_000003.12	Chr3	84,594,810	84,681,990
nssv14271028	Submitted genomic		NC_000003.12:g.(84 594810_?)_(?_84681 990)del	GRCh38 (hg38)		NC_000003.12	Chr3	84,594,810	84,681,990
nssv14271029	Submitted genomic		NC_000003.12:g.(84 594810_?)_(?_84681 990)del	GRCh38 (hg38)		NC_000003.12	Chr3	84,594,810	84,681,990
nssv14271030	Submitted genomic		NC_000003.12:g.(84 594810_?)_(?_84681 990)del	GRCh38 (hg38)		NC_000003.12	Chr3	84,594,810	84,681,990
nssv14271026	Remapped	Perfect	NC_000003.11:g.(84 643961_?)_(?_84731 141)del	GRCh37.p13	First Pass	NC_000003.11	Chr3	84,643,961	84,731,141
nssv14271027	Remapped	Perfect	NC_000003.11:g.(84 643961_?)_(?_84731 141)del	GRCh37.p13	First Pass	NC_000003.11	Chr3	84,643,961	84,731,141
nssv14271028	Remapped	Perfect	NC_000003.11:g.(84 643961_?)_(?_84731 141)del	GRCh37.p13	First Pass	NC_000003.11	Chr3	84,643,961	84,731,141
nssv14271029	Remapped	Perfect	NC_000003.11:g.(84 643961_?)_(?_84731 141)del	GRCh37.p13	First Pass	NC_000003.11	Chr3	84,643,961	84,731,141
nssv14271030	Remapped	Perfect	NC_000003.11:g.(84 643961_?)_(?_84731 141)del	GRCh37.p13	First Pass	NC_000003.11	Chr3	84,643,961	84,731,141

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

You are here: NCBI