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dbVar

Database of genomic structural variation

nsv508649

Organism: Homo sapiens

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

Variant Calls:4
Validation:Yes
Clinical Assertions: Yes
Region Size:40,194

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: 202 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):93,407,733-93,447,926

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv508649	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	93,407,733	93,447,926
nsv508649	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	93,140,899	93,181,092
nsv508649	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000011.8	Chr11	92,780,547	92,820,740

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
nssv617391	deletion	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350
nssv618781	deletion	GM10860	Optical mapping	Optical mapping				1,998
nssv619982	deletion	GM15510	Optical mapping	Optical mapping				1,740
nssv622576	deletion	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
nssv617391	Remapped	Perfect	NC_000011.10:g.(93 407733_?)_(?_93447 926)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	93,407,733	93,447,926
nssv618781	Remapped	Perfect	NC_000011.10:g.(93 407733_?)_(?_93447 926)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	93,407,733	93,447,926
nssv619982	Remapped	Perfect	NC_000011.10:g.(93 407733_?)_(?_93447 926)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	93,407,733	93,447,926
nssv622576	Remapped	Perfect	NC_000011.10:g.(93 407733_?)_(?_93447 926)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	93,407,733	93,447,926
nssv617391	Remapped	Perfect	NC_000011.9:g.(931 40899_?)_(?_931810 92)del	GRCh37.p13	First Pass	NC_000011.9	Chr11	93,140,899	93,181,092
nssv618781	Remapped	Perfect	NC_000011.9:g.(931 40899_?)_(?_931810 92)del	GRCh37.p13	First Pass	NC_000011.9	Chr11	93,140,899	93,181,092
nssv619982	Remapped	Perfect	NC_000011.9:g.(931 40899_?)_(?_931810 92)del	GRCh37.p13	First Pass	NC_000011.9	Chr11	93,140,899	93,181,092
nssv622576	Remapped	Perfect	NC_000011.9:g.(931 40899_?)_(?_931810 92)del	GRCh37.p13	First Pass	NC_000011.9	Chr11	93,140,899	93,181,092
nssv617391	Submitted genomic		NC_000011.8:g.(927 80547_?)_(?_928207 40)del6933	NCBI35 (hg17)		NC_000011.8	Chr11	92,780,547	92,820,740
nssv618781	Submitted genomic		NC_000011.8:g.(927 80547_?)_(?_928207 40)del6335	NCBI35 (hg17)		NC_000011.8	Chr11	92,780,547	92,820,740
nssv619982	Submitted genomic		NC_000011.8:g.(927 80547_?)_(?_928207 40)del6102	NCBI35 (hg17)		NC_000011.8	Chr11	92,780,547	92,820,740
nssv622576	Submitted genomic		NC_000011.8:g.(927 80547_?)_(?_928207 40)del6318	NCBI35 (hg17)		NC_000011.8	Chr11	92,780,547	92,820,740

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv619982	4	GM15510	Sequencing	Paired-end mapping	Pass

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Other Calls in this Sample and Study
nssv617391	CHM	NCBI35: NC_000011.8:g.(92780547_?)_(?_92820740)del6933	deletion	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

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