A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022292



Internal ID18764826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:77346780..77612732hg38UCSC Ensembl
Innerchr7:76976097..77242049hg19UCSC Ensembl
Innerchr7:76814033..77079985hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38265953
hg19265953
hg18265953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3657115
Samples
Known GenesGSAP, PTPN12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022292
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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