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dbVar

Database of genomic structural variation

nsv508329

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:19,275

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: 278 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):166,753,309-166,772,583

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv508329	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	166,753,309	166,772,583
nsv508329	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	167,674,460	167,693,734
nsv508329	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000004.9	Chr4	168,049,190	168,068,464

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
nssv617501	deletion	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350
nssv619948	deletion	GM15510	Optical mapping	Optical mapping				1,740
nssv622506	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
nssv617501	Remapped	Perfect	NC_000004.12:g.(16 6753309_?)_(?_1667 72583)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	166,753,309	166,772,583
nssv619948	Remapped	Perfect	NC_000004.12:g.(16 6753309_?)_(?_1667 72583)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	166,753,309	166,772,583
nssv622506	Remapped	Perfect	NC_000004.12:g.(16 6753309_?)_(?_1667 72583)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	166,753,309	166,772,583
nssv617501	Remapped	Perfect	NC_000004.11:g.(16 7674460_?)_(?_1676 93734)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	167,674,460	167,693,734
nssv619948	Remapped	Perfect	NC_000004.11:g.(16 7674460_?)_(?_1676 93734)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	167,674,460	167,693,734
nssv622506	Remapped	Perfect	NC_000004.11:g.(16 7674460_?)_(?_1676 93734)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	167,674,460	167,693,734
nssv617501	Submitted genomic		NC_000004.9:g.(168 049190_?)_(?_16806 8464)del6387	NCBI35 (hg17)		NC_000004.9	Chr4	168,049,190	168,068,464
nssv619948	Submitted genomic		NC_000004.9:g.(168 049190_?)_(?_16806 8464)del5212	NCBI35 (hg17)		NC_000004.9	Chr4	168,049,190	168,068,464
nssv622506	Submitted genomic		NC_000004.9:g.(168 049190_?)_(?_16806 8464)del4570	NCBI35 (hg17)		NC_000004.9	Chr4	168,049,190	168,068,464

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv619948	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
nssv617501	CHM	NCBI35: NC_000004.9:g.(168049190_?)_(?_168068464)del6387	deletion	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

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