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dbVar

Database of genomic structural variation

nsv3190753

Organism: Homo sapiens

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

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:130,983

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: 653 SVs from 72 studies. See in: genome view

Submitted genomic21,075,739-21,206,721

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv3190753	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	21,075,739	21,206,721
nsv3190753	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	21,077,362	21,208,344

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14272338	deletion	HG00512	Optical mapping	Optical mapping	Homozygous	13,827
nssv14272339	deletion	SAMN00006466	Optical mapping	Optical mapping	Homozygous	14,137
nssv14272340	deletion	HG00514	Optical mapping	Optical mapping	Homozygous	39,861
nssv14272341	deletion	SAMN00006579	Optical mapping	Optical mapping	Homozygous	13,953
nssv14272342	deletion	SAMN00006581	Optical mapping	Optical mapping	Homozygous	41,185
nssv14272343	deletion	SAMN00001694	Optical mapping	Optical mapping	Homozygous	16,419
nssv14272344	deletion	SAMN00001695	Optical mapping	Optical mapping	Heterozygous	15,732
nssv14272345	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
nssv14272338	Submitted genomic		NC_000004.12:g.(21 075739_?)_(?_21206 721)del	GRCh38 (hg38)		NC_000004.12	Chr4	21,075,739	21,206,721
nssv14272339	Submitted genomic		NC_000004.12:g.(21 075739_?)_(?_21206 721)del	GRCh38 (hg38)		NC_000004.12	Chr4	21,075,739	21,206,721
nssv14272340	Submitted genomic		NC_000004.12:g.(21 075739_?)_(?_21206 721)del	GRCh38 (hg38)		NC_000004.12	Chr4	21,075,739	21,206,721
nssv14272341	Submitted genomic		NC_000004.12:g.(21 075739_?)_(?_21206 721)del	GRCh38 (hg38)		NC_000004.12	Chr4	21,075,739	21,206,721
nssv14272342	Submitted genomic		NC_000004.12:g.(21 075739_?)_(?_21206 721)del	GRCh38 (hg38)		NC_000004.12	Chr4	21,075,739	21,206,721
nssv14272343	Submitted genomic		NC_000004.12:g.(21 075739_?)_(?_21206 721)del	GRCh38 (hg38)		NC_000004.12	Chr4	21,075,739	21,206,721
nssv14272344	Submitted genomic		NC_000004.12:g.(21 075739_?)_(?_21206 721)del	GRCh38 (hg38)		NC_000004.12	Chr4	21,075,739	21,206,721
nssv14272345	Submitted genomic		NC_000004.12:g.(21 075739_?)_(?_21206 721)del	GRCh38 (hg38)		NC_000004.12	Chr4	21,075,739	21,206,721
nssv14272338	Remapped	Perfect	NC_000004.11:g.(21 077362_?)_(?_21208 344)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	21,077,362	21,208,344
nssv14272339	Remapped	Perfect	NC_000004.11:g.(21 077362_?)_(?_21208 344)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	21,077,362	21,208,344
nssv14272340	Remapped	Perfect	NC_000004.11:g.(21 077362_?)_(?_21208 344)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	21,077,362	21,208,344
nssv14272341	Remapped	Perfect	NC_000004.11:g.(21 077362_?)_(?_21208 344)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	21,077,362	21,208,344
nssv14272342	Remapped	Perfect	NC_000004.11:g.(21 077362_?)_(?_21208 344)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	21,077,362	21,208,344
nssv14272343	Remapped	Perfect	NC_000004.11:g.(21 077362_?)_(?_21208 344)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	21,077,362	21,208,344
nssv14272344	Remapped	Perfect	NC_000004.11:g.(21 077362_?)_(?_21208 344)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	21,077,362	21,208,344
nssv14272345	Remapped	Perfect	NC_000004.11:g.(21 077362_?)_(?_21208 344)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	21,077,362	21,208,344

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.

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