A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058380



Internal ID18800911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54736641..54856896hg38UCSC Ensembl
Innerchr19:55248107..55368351hg19UCSC Ensembl
Innerchr19:59939919..60060163hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38120256
hg19120245
hg18120245
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3667n100
Supporting Variantsnssv3726585
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058380
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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