A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526344



Internal ID8420619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:54656321..55364952hg38UCSC Ensembl
Innerchr4:55522488..56231119hg19UCSC Ensembl
Innerchr4:55217245..55925876hg18UCSC Ensembl
Innerchr4:55363416..56072047hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38708632
hg19708632
hg18708632
hg17708632
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702636
Samples
Known GenesKDR, KIT, SRD5A3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526344
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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