A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057320



Internal ID18799851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54725768..54837236hg38UCSC Ensembl
Innerchr19:55237234..55348691hg19UCSC Ensembl
Innerchr19:59929046..60040503hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38111469
hg19111458
hg18111458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3666n100
Supporting Variantsnssv3573443, nssv3573444, nssv3573445
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL3, LOC100287534
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057320
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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