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dbVar

Database of genomic structural variation

nsv471517

Organism: Homo sapiens

Study:nstd31 (Alkan et al. 2009)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI35 (hg17)

Variant Calls:2
Validation:Yes
Clinical Assertions: No
Region Size:49,144

Description:OR2T10
Publication(s):Alkan et al. 2009

Links to Other Resources

Overlapping Genes

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: 1314 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):248,582,659-248,631,802

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471517	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	248,582,659	248,631,802
nsv471517	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	248,745,960	248,795,103
nsv471517	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000001.8	Chr1	245,072,001	245,121,144

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv547885	copy number loss	JDW	Sequencing	Read depth	1	198
nssv547886	copy number loss	YH	Sequencing	Read depth	1	201

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv547885	Remapped	Perfect	NC_000001.11:g.(24 8582659_?)_(?_2486 31802)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	248,582,659	248,631,802
nssv547886	Remapped	Perfect	NC_000001.11:g.(24 8582659_?)_(?_2486 31802)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	248,582,659	248,631,802
nssv547885	Remapped	Perfect	NC_000001.10:g.(24 8745960_?)_(?_2487 95103)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	248,745,960	248,795,103
nssv547886	Remapped	Perfect	NC_000001.10:g.(24 8745960_?)_(?_2487 95103)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	248,745,960	248,795,103
nssv547885	Submitted genomic		NC_000001.8:g.(245 072001_?)_(?_24512 1144)del	NCBI35 (hg17)		NC_000001.8	Chr1	245,072,001	245,121,144
nssv547886	Submitted genomic		NC_000001.8:g.(245 072001_?)_(?_24512 1144)del	NCBI35 (hg17)		NC_000001.8	Chr1	245,072,001	245,121,144

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv547885	3	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv547886	3	YH	Oligo aCGH	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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