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dbVar

Database of genomic structural variation

nsv508318

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:Not tested
Clinical Assertions: Yes
Region Size:41,726

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: 308 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):138,526,521-138,568,246

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv508318	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	138,526,521	138,568,246
nsv508318	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	139,447,675	139,489,400
nsv508318	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000004.9	Chr4	139,805,280	139,847,005

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
nssv617498	deletion	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350
nssv618754	deletion	GM10860	Optical mapping	Optical mapping				1,998
nssv622501	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
nssv617498	Remapped	Perfect	NC_000004.12:g.(13 8526521_?)_(?_1385 68246)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	138,526,521	138,568,246
nssv618754	Remapped	Perfect	NC_000004.12:g.(13 8526521_?)_(?_1385 68246)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	138,526,521	138,568,246
nssv622501	Remapped	Perfect	NC_000004.12:g.(13 8526521_?)_(?_1385 68246)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	138,526,521	138,568,246
nssv617498	Remapped	Perfect	NC_000004.11:g.(13 9447675_?)_(?_1394 89400)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	139,447,675	139,489,400
nssv618754	Remapped	Perfect	NC_000004.11:g.(13 9447675_?)_(?_1394 89400)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	139,447,675	139,489,400
nssv622501	Remapped	Perfect	NC_000004.11:g.(13 9447675_?)_(?_1394 89400)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	139,447,675	139,489,400
nssv617498	Submitted genomic		NC_000004.9:g.(139 805280_?)_(?_13984 7005)del4701	NCBI35 (hg17)		NC_000004.9	Chr4	139,805,280	139,847,005
nssv618754	Submitted genomic		NC_000004.9:g.(139 805280_?)_(?_13984 7005)del5393	NCBI35 (hg17)		NC_000004.9	Chr4	139,805,280	139,847,005
nssv622501	Submitted genomic		NC_000004.9:g.(139 805280_?)_(?_13984 7005)del3948	NCBI35 (hg17)		NC_000004.9	Chr4	139,805,280	139,847,005

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Other Calls in this Sample and Study
nssv617498	CHM	NCBI35: NC_000004.9:g.(139805280_?)_(?_139847005)del4701	deletion	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

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