A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606747



Internal ID16394156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44107701..44111852hg38UCSC Ensembl
Innerchr7:44147300..44151451hg19UCSC Ensembl
Innerchr7:44113825..44117976hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg384152
hg194152
hg184152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1083226
Samples
Known GenesAEBP1, MIR4649
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606747
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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