A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580300



Internal ID16021023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54770165..54775604hg38UCSC Ensembl
Innerchr19:55281617..55287056hg19UCSC Ensembl
Innerchr19:59973429..59978868hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg385440
hg195440
hg185440
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv901743, nssv901746, nssv901742, nssv901744, nssv901740, nssv901745, nssv901741
Samples
Known GenesKIR2DL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580300
Frequency
Sample Size17421
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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