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dbVar

Database of genomic structural variation

nsv508611

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:68,167

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: 890 SVs from 81 studies. See in: genome view

Remapped(Score: Perfect):122,562,819-122,630,985

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv508611	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	122,562,819	122,630,985
nsv508611	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	124,322,335	124,390,501
nsv508611	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000010.8	Chr10	124,312,325	124,380,491

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
nssv617384	deletion	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350
nssv618970	deletion	GM10860	Optical mapping	Optical mapping				1,998
nssv622769	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
nssv617384	Remapped	Perfect	NC_000010.11:g.(12 2562819_?)_(?_1225 84627)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	122,562,819	122,584,627
nssv618970	Remapped	Perfect	NC_000010.11:g.(12 2584627_?)_(?_1226 30985)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	122,584,627	122,630,985
nssv622769	Remapped	Perfect	NC_000010.11:g.(12 2584627_?)_(?_1226 30985)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	122,584,627	122,630,985
nssv617384	Remapped	Perfect	NC_000010.10:g.(12 4322335_?)_(?_1243 44143)del	GRCh37.p13	First Pass	NC_000010.10	Chr10	124,322,335	124,344,143
nssv618970	Remapped	Perfect	NC_000010.10:g.(12 4344143_?)_(?_1243 90501)del	GRCh37.p13	First Pass	NC_000010.10	Chr10	124,344,143	124,390,501
nssv622769	Remapped	Perfect	NC_000010.10:g.(12 4344143_?)_(?_1243 90501)del	GRCh37.p13	First Pass	NC_000010.10	Chr10	124,344,143	124,390,501
nssv617384	Submitted genomic		NC_000010.8:g.(124 312325_?)_(?_12433 4133)del21808	NCBI35 (hg17)		NC_000010.8	Chr10	124,312,325	124,334,133
nssv618970	Submitted genomic		NC_000010.8:g.(124 334133_?)_(?_12438 0491)del5263	NCBI35 (hg17)		NC_000010.8	Chr10	124,334,133	124,380,491
nssv622769	Submitted genomic		NC_000010.8:g.(124 334133_?)_(?_12438 0491)del8742	NCBI35 (hg17)		NC_000010.8	Chr10	124,334,133	124,380,491

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
nssv617384	CHM	NCBI35: NC_000010.8:g.(124312325_?)_(?_124334133)del21808	deletion	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

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