A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv675468



Internal ID15065434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54714899..54815284hg38UCSC Ensembl
Innerchr19:55226402..55326739hg19UCSC Ensembl
Innerchr19:59918214..60018551hg18UCSC Ensembl
Innerchr19:59918214..60018551hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38100386
hg19100338
hg18100338
hg17100338
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517143
Supporting Variants
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR3DL3, LOC100287534
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv675468
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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