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dbVar

Database of genomic structural variation

nsv508175

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:25,237

Publication(s):Teague et al. 2010

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: 341 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):159,282,659-159,307,895

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv508175	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	159,282,659	159,307,895
nsv508175	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	160,139,170	160,164,406
nsv508175	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000002.9	Chr2	159,964,677	159,989,913

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv618697	deletion	GM10860	Optical mapping	Optical mapping	1,998
nssv622822	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
nssv618697	Remapped	Perfect	NC_000002.12:g.(15 9282659_?)_(?_1593 07895)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	159,282,659	159,307,895
nssv622822	Remapped	Perfect	NC_000002.12:g.(15 9282659_?)_(?_1593 07895)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	159,282,659	159,307,895
nssv618697	Remapped	Perfect	NC_000002.11:g.(16 0139170_?)_(?_1601 64406)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	160,139,170	160,164,406
nssv622822	Remapped	Perfect	NC_000002.11:g.(16 0139170_?)_(?_1601 64406)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	160,139,170	160,164,406
nssv618697	Submitted genomic		NC_000002.9:g.(159 964677_?)_(?_15998 9913)del3280	NCBI35 (hg17)		NC_000002.9	Chr2	159,964,677	159,989,913
nssv622822	Submitted genomic		NC_000002.9:g.(159 964677_?)_(?_15998 9913)del3040	NCBI35 (hg17)		NC_000002.9	Chr2	159,964,677	159,989,913

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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