A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061918



Internal ID18804449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54725768..54828266hg38UCSC Ensembl
Innerchr19:55237234..55339721hg19UCSC Ensembl
Innerchr19:59929046..60031533hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38102499
hg19102488
hg18102488
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3666n100
Supporting Variantsnssv3726569, nssv3573442, nssv3573441, nssv3573440, nssv3726568, nssv3573438, nssv3573439, nssv3573437
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, 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)nsv1061918
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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