A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580325



Internal ID16021048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54786400..54821146hg38UCSC Ensembl
Innerchr19:55297852..55332601hg19UCSC Ensembl
Innerchr19:59989664..60024413hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3834747
hg1934750
hg1834750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6579n54
Supporting Variantsnssv901782, nssv901781, nssv901780, nssv901779
Samples
Known GenesKIR2DL4, KIR3DL1, LOC100287534
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580325
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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