A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608479



Internal ID16395888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140174287..140176907hg38UCSC Ensembl
Innerchr7:139874087..139876707hg19UCSC Ensembl
Innerchr7:139520556..139523176hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg382621
hg192621
hg182621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1094818, nssv1094817
Samples
Known GenesKDM7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608479
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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