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

dbVar

Database of genomic structural variation

nsv509191

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:47,558

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: 273 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):35,123,538-35,171,095

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv509191	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	35,123,538	35,171,095
nsv509191	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	35,589,139	35,636,696
nsv509191	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000001.8	Chr1	35,258,232	35,305,789

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
nssv617993	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
nssv617993	Remapped	Perfect	NC_000001.11:g.(35 123538_?)_(?_35171 095)ins6906	GRCh38.p12	First Pass	NC_000001.11	Chr1	35,123,538	35,171,095
nssv617993	Remapped	Perfect	NC_000001.10:g.(35 589139_?)_(?_35636 696)ins6906	GRCh37.p13	First Pass	NC_000001.10	Chr1	35,589,139	35,636,696
nssv617993	Submitted genomic		NC_000001.8:g.(352 58232_?)_(?_353057 89)ins6906	NCBI35 (hg17)		NC_000001.8	Chr1	35,258,232	35,305,789

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
nssv617993	CHM	NCBI35: NC_000001.8:g.(35258232_?)_(?_35305789)ins6906	insertion	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

You are here: NCBI