A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524681



Internal ID6021036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119433518..121311799hg19UCSC Ensembl
Innerchr1:119235041..121013322hg18UCSC Ensembl
Innerchr1:119145560..120923841hg17UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv700652
Samples
Known GenesADAM30, EMBP1, FAM72B, FCGR1B, HAO2, HIST2H2BA, HMGCS2, HSD3B1, HSD3B2, HSD3BP4, LOC644242, NBPF7, NOTCH2, PHGDH, REG4, TBX15, WARS2, ZNF697
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv524681
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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