A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612543



Internal ID16053266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:139690941..139729611hg38UCSC Ensembl
Innerchr8:140703184..140741854hg19UCSC Ensembl
Innerchr8:140772366..140811036hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3838671
hg1938671
hg1838671
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156881
Samples1780862093_A
Known GenesKCNK9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612543
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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