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dbVar

Database of genomic structural variation

nsv508796

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:30,593

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: 446 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):123,113,267-123,143,859

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv508796	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	123,113,267	123,143,859
nsv508796	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	122,247,120	122,277,712
nsv508796	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000023.8	ChrX	121,972,655	122,003,247

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
nssv618150	insertion	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350
nssv619601	insertion	GM10860	Optical mapping	Optical mapping				1,998
nssv620957	insertion	GM15510	Optical mapping	Optical mapping				1,740
nssv623602	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
nssv618150	Remapped	Perfect	NC_000023.11:g.(12 3113267_?)_(?_1231 43859)ins4875	GRCh38.p12	First Pass	NC_000023.11	ChrX	123,113,267	123,143,859
nssv619601	Remapped	Perfect	NC_000023.11:g.(12 3113267_?)_(?_1231 43859)ins3315	GRCh38.p12	First Pass	NC_000023.11	ChrX	123,113,267	123,143,859
nssv620957	Remapped	Perfect	NC_000023.11:g.(12 3113267_?)_(?_1231 43859)ins3642	GRCh38.p12	First Pass	NC_000023.11	ChrX	123,113,267	123,143,859
nssv623602	Remapped	Perfect	NC_000023.11:g.(12 3113267_?)_(?_1231 43859)ins4404	GRCh38.p12	First Pass	NC_000023.11	ChrX	123,113,267	123,143,859
nssv618150	Remapped	Perfect	NC_000023.10:g.(12 2247120_?)_(?_1222 77712)ins4875	GRCh37.p13	First Pass	NC_000023.10	ChrX	122,247,120	122,277,712
nssv619601	Remapped	Perfect	NC_000023.10:g.(12 2247120_?)_(?_1222 77712)ins3315	GRCh37.p13	First Pass	NC_000023.10	ChrX	122,247,120	122,277,712
nssv620957	Remapped	Perfect	NC_000023.10:g.(12 2247120_?)_(?_1222 77712)ins3642	GRCh37.p13	First Pass	NC_000023.10	ChrX	122,247,120	122,277,712
nssv623602	Remapped	Perfect	NC_000023.10:g.(12 2247120_?)_(?_1222 77712)ins4404	GRCh37.p13	First Pass	NC_000023.10	ChrX	122,247,120	122,277,712
nssv618150	Submitted genomic		NC_000023.8:g.(121 972655_?)_(?_12200 3247)ins4875	NCBI35 (hg17)		NC_000023.8	ChrX	121,972,655	122,003,247
nssv619601	Submitted genomic		NC_000023.8:g.(121 972655_?)_(?_12200 3247)ins3315	NCBI35 (hg17)		NC_000023.8	ChrX	121,972,655	122,003,247
nssv620957	Submitted genomic		NC_000023.8:g.(121 972655_?)_(?_12200 3247)ins3642	NCBI35 (hg17)		NC_000023.8	ChrX	121,972,655	122,003,247
nssv623602	Submitted genomic		NC_000023.8:g.(121 972655_?)_(?_12200 3247)ins4404	NCBI35 (hg17)		NC_000023.8	ChrX	121,972,655	122,003,247

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
nssv618150	CHM	NCBI35: NC_000023.8:g.(121972655_?)_(?_122003247)ins4875	insertion	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

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