A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150375



Internal ID15533143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54791531..54868759hg38UCSC Ensembl
Innerchr19:55302983..55380214hg19UCSC Ensembl
Innerchr19:59994795..60072026hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3877229
hg1977232
hg1877232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv580333
Supporting Variants
SamplesNINDS_114
Known GenesKIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150375
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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