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dbVar

Database of genomic structural variation

nsv510577

Organism: Homo sapiens

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

Variant Calls:3
Validation:Yes
Clinical Assertions: Yes
Region Size:40,705

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: 280 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):29,639,475-29,680,179

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv510577	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	29,639,475	29,680,179
nsv510577	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	30,213,612	30,254,316
nsv510577	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000013.9	Chr13	29,111,612	29,152,316

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
nssv617403	deletion	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350
nssv618899	deletion	GM10860	Optical mapping	Optical mapping				1,998
nssv620056	deletion	GM15510	Optical mapping	Optical mapping				1,740

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv617403	Remapped	Perfect	NC_000013.11:g.(29 639475_?)_(?_29680 179)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	29,639,475	29,680,179
nssv618899	Remapped	Perfect	NC_000013.11:g.(29 639475_?)_(?_29680 179)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	29,639,475	29,680,179
nssv620056	Remapped	Perfect	NC_000013.11:g.(29 639475_?)_(?_29680 179)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	29,639,475	29,680,179
nssv617403	Remapped	Perfect	NC_000013.10:g.(30 213612_?)_(?_30254 316)del	GRCh37.p13	First Pass	NC_000013.10	Chr13	30,213,612	30,254,316
nssv618899	Remapped	Perfect	NC_000013.10:g.(30 213612_?)_(?_30254 316)del	GRCh37.p13	First Pass	NC_000013.10	Chr13	30,213,612	30,254,316
nssv620056	Remapped	Perfect	NC_000013.10:g.(30 213612_?)_(?_30254 316)del	GRCh37.p13	First Pass	NC_000013.10	Chr13	30,213,612	30,254,316
nssv617403	Submitted genomic		NC_000013.9:g.(291 11612_?)_(?_291523 16)del6678	NCBI35 (hg17)		NC_000013.9	Chr13	29,111,612	29,152,316
nssv618899	Submitted genomic		NC_000013.9:g.(291 11612_?)_(?_291523 16)del4258	NCBI35 (hg17)		NC_000013.9	Chr13	29,111,612	29,152,316
nssv620056	Submitted genomic		NC_000013.9:g.(291 11612_?)_(?_291523 16)del5254	NCBI35 (hg17)		NC_000013.9	Chr13	29,111,612	29,152,316

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv620056	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
nssv617403	CHM	NCBI35: NC_000013.9:g.(29111612_?)_(?_29152316)del6678	deletion	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

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