A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029998



Internal ID18772529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:115763322..116057888hg38UCSC Ensembl
Innerchr6:116084486..116379051hg19UCSC Ensembl
Innerchr6:116191179..116485744hg18UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38294567
hg19294566
hg18294566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3654315
Samples
Known GenesFRK, TPI1P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029998
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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