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dbVar

Database of genomic structural variation

nsv508333

Organism: Homo sapiens

Study:nstd49 (Teague et al. 2010)
Variant Type:copy number variation
Method Type:Optical mapping
Submitted on:NCBI35 (hg17)

Variant Calls:4
Validation:Yes
Clinical Assertions: Yes
Region Size:77,990

Publication(s):Teague et al. 2010

Links to Other Resources

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: 611 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):172,448,535-172,526,524

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv508333	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	172,448,535	172,526,524
nsv508333	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	173,369,686	173,447,675
nsv508333	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000004.9	Chr4	173,744,416	173,822,405

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Other Calls in this Sample and Study
nssv617504	deletion	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350
nssv618759	deletion	GM10860	Optical mapping	Optical mapping				1,998
nssv619949	deletion	GM15510	Optical mapping	Optical mapping				1,740
nssv622509	deletion	GM18994	Optical mapping	Optical mapping				1,936

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv617504	Remapped	Perfect	NC_000004.12:g.(17 2448535_?)_(?_1725 26524)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	172,448,535	172,526,524
nssv618759	Remapped	Perfect	NC_000004.12:g.(17 2448535_?)_(?_1725 26524)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	172,448,535	172,526,524
nssv619949	Remapped	Perfect	NC_000004.12:g.(17 2448535_?)_(?_1725 26524)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	172,448,535	172,526,524
nssv622509	Remapped	Perfect	NC_000004.12:g.(17 2448535_?)_(?_1725 26524)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	172,448,535	172,526,524
nssv617504	Remapped	Perfect	NC_000004.11:g.(17 3369686_?)_(?_1734 47675)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,369,686	173,447,675
nssv618759	Remapped	Perfect	NC_000004.11:g.(17 3369686_?)_(?_1734 47675)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,369,686	173,447,675
nssv619949	Remapped	Perfect	NC_000004.11:g.(17 3369686_?)_(?_1734 47675)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,369,686	173,447,675
nssv622509	Remapped	Perfect	NC_000004.11:g.(17 3369686_?)_(?_1734 47675)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,369,686	173,447,675
nssv617504	Submitted genomic		NC_000004.9:g.(173 744416_?)_(?_17382 2405)del11582	NCBI35 (hg17)		NC_000004.9	Chr4	173,744,416	173,822,405
nssv618759	Submitted genomic		NC_000004.9:g.(173 744416_?)_(?_17382 2405)del10113	NCBI35 (hg17)		NC_000004.9	Chr4	173,744,416	173,822,405
nssv619949	Submitted genomic		NC_000004.9:g.(173 744416_?)_(?_17382 2405)del8057	NCBI35 (hg17)		NC_000004.9	Chr4	173,744,416	173,822,405
nssv622509	Submitted genomic		NC_000004.9:g.(173 744416_?)_(?_17382 2405)del10760	NCBI35 (hg17)		NC_000004.9	Chr4	173,744,416	173,822,405

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv618759	9	GM10860	Oligo aCGH	Probe signal intensity	Pass
nssv622509	9	GM18994	Oligo aCGH	Probe signal intensity	Pass
nssv619949	2	GM15510	Sequencing	Paired-end mapping	Pass
nssv619949	4	GM15510	Sequencing	Paired-end mapping	Pass

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Other Calls in this Sample and Study
nssv617504	CHM	NCBI35: NC_000004.9:g.(173744416_?)_(?_173822405)del11582	deletion	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

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