A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3573435



Internal ID18525030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54725768..54812586hg38UCSC Ensembl
Innerchr19:55237234..55324041hg19UCSC Ensembl
Innerchr19:59929046..60015853hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3886819
hg1986808
hg1886808
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1056166
Supporting Variants
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, 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)nssv3573435
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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