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dbVar

Database of genomic structural variation

nsv937177

Organism: Homo sapiens

Study:nstd84 (de Ligt et al. 2013)
Variant Type:copy number variation
Method Type:Oligo aCGH, SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:184,541

Publication(s):de Ligt et al. 2013

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: 1378 SVs from 94 studies. See in: genome view

Remapped(Score: Perfect):136,665,653-136,850,193

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv937177	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	136,665,653	136,665,653	136,850,193	136,850,193
nsv937177	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	137,677,896	137,677,896	137,862,436	137,862,436

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv1661840	copy number loss	2	SNP array	SNP genotyping analysis	1	1,450
nssv1661936	copy number loss	2	Oligo aCGH	Probe signal intensity	1	1,450
nssv1661414	copy number loss	2	SNP array	SNP genotyping analysis	1	1,450

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv1661840	Remapped	Perfect	NC_000008.11:g.(13 6665653_?)_(?_1368 50193)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,665,653	136,850,193
nssv1661936	Remapped	Perfect	NC_000008.11:g.(13 6668655_?)_(?_1368 49966)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,668,655	136,849,966
nssv1661414	Remapped	Perfect	NC_000008.11:g.(13 6675712_?)_(?_1368 50192)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,675,712	136,850,192
nssv1661840	Submitted genomic		NC_000008.10:g.(13 7677896_?)_(?_1378 62436)del	GRCh37 (hg19)		NC_000008.10	Chr8	137,677,896	137,862,436
nssv1661936	Submitted genomic		NC_000008.10:g.(13 7680898_?)_(?_1378 62209)del	GRCh37 (hg19)		NC_000008.10	Chr8	137,680,898	137,862,209
nssv1661414	Submitted genomic		NC_000008.10:g.(13 7687955_?)_(?_1378 62435)del	GRCh37 (hg19)		NC_000008.10	Chr8	137,687,955	137,862,435

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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