A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064650



Internal ID18807181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54736516..54837236hg38UCSC Ensembl
Innerchr19:55247983..55348691hg19UCSC Ensembl
Innerchr19:59939795..60040503hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38100721
hg19100709
hg18100709
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3666n100
Supporting Variantsnssv3726582, nssv3574592
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)nsv1064650
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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