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dbVar

Database of genomic structural variation

nsv509010

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: Yes
Region Size:34,095

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: 250 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):91,037,718-91,071,812

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv509010	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	91,037,718	91,071,812
nsv509010	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	91,958,869	91,992,963
nsv509010	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000004.9	Chr4	92,316,047	92,350,141

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
nssv620792	insertion	GM15510	Optical mapping	Optical mapping				1,740
nssv623414	insertion	GM18994	Optical mapping	Optical mapping				1,936
nssv618026	insertion	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350
nssv619378	insertion	GM10860	Optical mapping	Optical mapping				1,998

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv620792	Remapped	Perfect	NC_000004.12:g.(91 037718_?)_(?_91071 812)ins4905	GRCh38.p12	First Pass	NC_000004.12	Chr4	91,037,718	91,071,812
nssv623414	Remapped	Perfect	NC_000004.12:g.(91 037718_?)_(?_91071 812)ins5791	GRCh38.p12	First Pass	NC_000004.12	Chr4	91,037,718	91,071,812
nssv618026	Remapped	Perfect	NC_000004.12:g.(91 038847_?)_(?_91071 812)ins4203	GRCh38.p12	First Pass	NC_000004.12	Chr4	91,038,847	91,071,812
nssv619378	Remapped	Perfect	NC_000004.12:g.(91 038847_?)_(?_91071 812)ins5331	GRCh38.p12	First Pass	NC_000004.12	Chr4	91,038,847	91,071,812
nssv620792	Remapped	Perfect	NC_000004.11:g.(91 958869_?)_(?_91992 963)ins4905	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,958,869	91,992,963
nssv623414	Remapped	Perfect	NC_000004.11:g.(91 958869_?)_(?_91992 963)ins5791	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,958,869	91,992,963
nssv618026	Remapped	Perfect	NC_000004.11:g.(91 959998_?)_(?_91992 963)ins4203	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,959,998	91,992,963
nssv619378	Remapped	Perfect	NC_000004.11:g.(91 959998_?)_(?_91992 963)ins5331	GRCh37.p13	First Pass	NC_000004.11	Chr4	91,959,998	91,992,963
nssv620792	Submitted genomic		NC_000004.9:g.(923 16047_?)_(?_923501 41)ins4905	NCBI35 (hg17)		NC_000004.9	Chr4	92,316,047	92,350,141
nssv623414	Submitted genomic		NC_000004.9:g.(923 16047_?)_(?_923501 41)ins5791	NCBI35 (hg17)		NC_000004.9	Chr4	92,316,047	92,350,141
nssv618026	Submitted genomic		NC_000004.9:g.(923 17176_?)_(?_923501 41)ins4203	NCBI35 (hg17)		NC_000004.9	Chr4	92,317,176	92,350,141
nssv619378	Submitted genomic		NC_000004.9:g.(923 17176_?)_(?_923501 41)ins5331	NCBI35 (hg17)		NC_000004.9	Chr4	92,317,176	92,350,141

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
nssv618026	CHM	NCBI35: NC_000004.9:g.(92317176_?)_(?_92350141)ins4203	insertion	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

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