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dbVar

Database of genomic structural variation

nsv471355

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:951

Description:OR2T11
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: 941 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):248,626,178-248,627,128

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471355	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	248,626,178	248,627,128
nsv471355	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	248,789,479	248,790,429
nsv471355	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000001.8	Chr1	245,115,520	245,116,470

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv548058	copy number loss	JDW	Sequencing	Read depth	1	198
nssv548059	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
nssv548058	Remapped	Perfect	NC_000001.11:g.(24 8626178_?)_(?_2486 27128)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	248,626,178	248,627,128
nssv548059	Remapped	Perfect	NC_000001.11:g.(24 8626178_?)_(?_2486 27128)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	248,626,178	248,627,128
nssv548058	Remapped	Perfect	NC_000001.10:g.(24 8789479_?)_(?_2487 90429)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	248,789,479	248,790,429
nssv548059	Remapped	Perfect	NC_000001.10:g.(24 8789479_?)_(?_2487 90429)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	248,789,479	248,790,429
nssv548058	Submitted genomic		NC_000001.8:g.(245 115520_?)_(?_24511 6470)del	NCBI35 (hg17)		NC_000001.8	Chr1	245,115,520	245,116,470
nssv548059	Submitted genomic		NC_000001.8:g.(245 115520_?)_(?_24511 6470)del	NCBI35 (hg17)		NC_000001.8	Chr1	245,115,520	245,116,470

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv548058	4	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv548059	4	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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