A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580249



Internal ID16020972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54736641..54832151hg38UCSC Ensembl
Innerchr19:55248107..55343606hg19UCSC Ensembl
Innerchr19:59939919..60035418hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3895511
hg1995500
hg1895500
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6564n54
Supporting Variantsnssv901646
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR3DL1, LOC100287534
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580249
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer