A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588078



Internal ID16375487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16702213..16858514hg38UCSC Ensembl
Innerchr22:17183103..17339404hg19UCSC Ensembl
Innerchr22:15563103..15719404hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38156302
hg19156302
hg18156302
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7947n54
Supporting Variantsnssv949518
Samples
Known GenesHSFY1P1, XKR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588078
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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