A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612542



Internal ID16053265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:139658470..139709935hg38UCSC Ensembl
Innerchr8:140670713..140722178hg19UCSC Ensembl
Innerchr8:140739895..140791360hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3851466
hg1951466
hg1851466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12360n54
Supporting Variantsnssv1124237
Samples
Known GenesKCNK9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612542
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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