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dbVar

Database of genomic structural variation

nsv509240

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:38,183

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

Remapped(Score: Perfect):791,568-827,376

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv509240	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	791,568	827,376
nsv509240	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187572.1	Chr8\|NT_18 7572.1	73,159	111,341
nsv509240	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	741,568	777,376
nsv509240	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000008.9	Chr8	731,568	767,376

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
nssv618070	insertion	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv618070	Remapped	Pass	NT_187572.1:g.(731 59_?)_(?_111341)in s3485	GRCh38.p12	Second Pass	NT_187572.1	Chr8\|NT_18 7572.1	73,159	111,341
nssv618070	Remapped	Perfect	NC_000008.11:g.(79 1568_?)_(?_827376) ins3485	GRCh38.p12	First Pass	NC_000008.11	Chr8	791,568	827,376
nssv618070	Remapped	Perfect	NC_000008.10:g.(74 1568_?)_(?_777376) ins3485	GRCh37.p13	First Pass	NC_000008.10	Chr8	741,568	777,376
nssv618070	Submitted genomic		NC_000008.9:g.(731 568_?)_(?_767376)i ns3485	NCBI35 (hg17)		NC_000008.9	Chr8	731,568	767,376

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
nssv618070	CHM	NCBI35: NC_000008.9:g.(731568_?)_(?_767376)ins3485	insertion	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

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