A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067447



Internal ID18809978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54756764..54868189hg38UCSC Ensembl
Innerchr19:55268216..55379644hg19UCSC Ensembl
Innerchr19:59960028..60071456hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38111426
hg19111429
hg18111429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3668n100
Supporting Variantsnssv3570221, nssv3570222, nssv3570223
Samples
Known GenesKIR2DL1, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067447
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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