A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580296



Internal ID16021019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54770165..54773406hg38UCSC Ensembl
Innerchr19:55281617..55284858hg19UCSC Ensembl
Innerchr19:59973429..59976670hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg383242
hg193242
hg183242
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6573n54
Supporting Variantsnssv901735, nssv901733, nssv901734
Samples
Known GenesKIR2DL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580296
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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