A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604517



Internal ID16045240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:111031543..111259358hg38UCSC Ensembl
Innerchr6:111352746..111580561hg19UCSC Ensembl
Innerchr6:111459439..111687254hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38227816
hg19227816
hg18227816
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1072052
Samples
Known GenesGSTM2P1, KIAA1919, SLC16A10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604517
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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