A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580295



Internal ID16367704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54770165..54773045hg38UCSC Ensembl
Innerchr19:55281617..55284497hg19UCSC Ensembl
Innerchr19:59973429..59976309hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382881
hg192881
hg182881
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6573n54
Supporting Variantsnssv901729, nssv901718, nssv901723, nssv901722, nssv901717, nssv901724, nssv901731, nssv901721, nssv901727, nssv901725, nssv901726, nssv901720, nssv901719, nssv901728, nssv901732, nssv901730
Samples
Known GenesKIR2DL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580295
Frequency
Sample Size17421
Observed Gain2
Observed Loss14
Observed Complex0
Frequencyn/a


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