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dbVar

Database of genomic structural variation

nsv511014

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: Yes
Region Size:129,155

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 64 studies. See in: genome view

Remapped(Score: Perfect):17,763,125-17,892,279

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv511014	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	17,763,125	17,892,279
nsv511014	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	17,916,059	18,045,213
nsv511014	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000012.9	Chr12	17,807,326	17,936,480

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
nssv618613	inversion	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350
nssv621617	inversion	GM15510	Optical mapping	Optical mapping				1,740
nssv622392	inversion	GM10860	Optical mapping	Optical mapping				1,998
nssv624334	inversion	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
nssv618613	Remapped	Perfect	NC_000012.12:g.(17 763125_?)_(?_17892 279)inv525	GRCh38.p12	First Pass	NC_000012.12	Chr12	17,763,125	17,892,279
nssv621617	Remapped	Perfect	NC_000012.12:g.(17 763125_?)_(?_17892 279)inv	GRCh38.p12	First Pass	NC_000012.12	Chr12	17,763,125	17,892,279
nssv622392	Remapped	Perfect	NC_000012.12:g.(17 763125_?)_(?_17892 279)inv	GRCh38.p12	First Pass	NC_000012.12	Chr12	17,763,125	17,892,279
nssv624334	Remapped	Perfect	NC_000012.12:g.(17 763125_?)_(?_17892 279)inv	GRCh38.p12	First Pass	NC_000012.12	Chr12	17,763,125	17,892,279
nssv618613	Remapped	Perfect	NC_000012.11:g.(17 916059_?)_(?_18045 213)inv525	GRCh37.p13	First Pass	NC_000012.11	Chr12	17,916,059	18,045,213
nssv621617	Remapped	Perfect	NC_000012.11:g.(17 916059_?)_(?_18045 213)inv	GRCh37.p13	First Pass	NC_000012.11	Chr12	17,916,059	18,045,213
nssv622392	Remapped	Perfect	NC_000012.11:g.(17 916059_?)_(?_18045 213)inv	GRCh37.p13	First Pass	NC_000012.11	Chr12	17,916,059	18,045,213
nssv624334	Remapped	Perfect	NC_000012.11:g.(17 916059_?)_(?_18045 213)inv	GRCh37.p13	First Pass	NC_000012.11	Chr12	17,916,059	18,045,213
nssv618613	Submitted genomic		NC_000012.9:g.(178 07326_?)_(?_179364 80)inv525	NCBI35 (hg17)		NC_000012.9	Chr12	17,807,326	17,936,480
nssv621617	Submitted genomic		NC_000012.9:g.(178 07326_?)_(?_179364 80)inv	NCBI35 (hg17)		NC_000012.9	Chr12	17,807,326	17,936,480
nssv622392	Submitted genomic		NC_000012.9:g.(178 07326_?)_(?_179364 80)inv	NCBI35 (hg17)		NC_000012.9	Chr12	17,807,326	17,936,480
nssv624334	Submitted genomic		NC_000012.9:g.(178 07326_?)_(?_179364 80)inv	NCBI35 (hg17)		NC_000012.9	Chr12	17,807,326	17,936,480

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
nssv618613	CHM	NCBI35: NC_000012.9:g.(17807326_?)_(?_17936480)inv525	inversion	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

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