A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150372



Internal ID15533995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54790359..54815284hg38UCSC Ensembl
Innerchr19:55301811..55326739hg19UCSC Ensembl
Innerchr19:59993623..60018551hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3824926
hg1924929
hg1824929
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv580328
Supporting Variants
SamplesNINDS_246
Known GenesKIR2DL4, LOC100287534
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150372
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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