A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059327



Internal ID18801858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54739639..54837236hg38UCSC Ensembl
Innerchr19:55251085..55348691hg19UCSC Ensembl
Innerchr19:59942897..60040503hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3897598
hg1997607
hg1897607
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3666n100
Supporting Variantsnssv3574615, nssv3574614, nssv3726591, nssv3726592, nssv3726590
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, LOC100287534
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059327
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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