Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv509336

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:36,534

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: 502 SVs from 63 studies. See in: genome view

Remapped(Score: Perfect):137,698,788-137,735,321

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv509336	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	137,698,788	137,735,321
nsv509336	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	140,593,240	140,629,773
nsv509336	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000009.9	Chr9	137,869,077	137,905,610

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
nssv618079	insertion	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350
nssv619572	insertion	GM10860	Optical mapping	Optical mapping				1,998
nssv620933	insertion	GM15510	Optical mapping	Optical mapping				1,740
nssv623572	insertion	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
nssv618079	Remapped	Perfect	NC_000009.12:g.(13 7698788_?)_(?_1377 35321)ins4876	GRCh38.p12	First Pass	NC_000009.12	Chr9	137,698,788	137,735,321
nssv619572	Remapped	Perfect	NC_000009.12:g.(13 7698788_?)_(?_1377 35321)ins11184	GRCh38.p12	First Pass	NC_000009.12	Chr9	137,698,788	137,735,321
nssv620933	Remapped	Perfect	NC_000009.12:g.(13 7698788_?)_(?_1377 35321)ins4222	GRCh38.p12	First Pass	NC_000009.12	Chr9	137,698,788	137,735,321
nssv623572	Remapped	Perfect	NC_000009.12:g.(13 7698788_?)_(?_1377 35321)ins4496	GRCh38.p12	First Pass	NC_000009.12	Chr9	137,698,788	137,735,321
nssv618079	Remapped	Perfect	NC_000009.11:g.(14 0593240_?)_(?_1406 29773)ins4876	GRCh37.p13	First Pass	NC_000009.11	Chr9	140,593,240	140,629,773
nssv619572	Remapped	Perfect	NC_000009.11:g.(14 0593240_?)_(?_1406 29773)ins11184	GRCh37.p13	First Pass	NC_000009.11	Chr9	140,593,240	140,629,773
nssv620933	Remapped	Perfect	NC_000009.11:g.(14 0593240_?)_(?_1406 29773)ins4222	GRCh37.p13	First Pass	NC_000009.11	Chr9	140,593,240	140,629,773
nssv623572	Remapped	Perfect	NC_000009.11:g.(14 0593240_?)_(?_1406 29773)ins4496	GRCh37.p13	First Pass	NC_000009.11	Chr9	140,593,240	140,629,773
nssv618079	Submitted genomic		NC_000009.9:g.(137 869077_?)_(?_13790 5610)ins4876	NCBI35 (hg17)		NC_000009.9	Chr9	137,869,077	137,905,610
nssv619572	Submitted genomic		NC_000009.9:g.(137 869077_?)_(?_13790 5610)ins11184	NCBI35 (hg17)		NC_000009.9	Chr9	137,869,077	137,905,610
nssv620933	Submitted genomic		NC_000009.9:g.(137 869077_?)_(?_13790 5610)ins4222	NCBI35 (hg17)		NC_000009.9	Chr9	137,869,077	137,905,610
nssv623572	Submitted genomic		NC_000009.9:g.(137 869077_?)_(?_13790 5610)ins4496	NCBI35 (hg17)		NC_000009.9	Chr9	137,869,077	137,905,610

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
nssv618079	CHM	NCBI35: NC_000009.9:g.(137869077_?)_(?_137905610)ins4876	insertion	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

You are here: NCBI