A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056921



Internal ID18799452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54786419..54854163hg38UCSC Ensembl
Innerchr19:55297871..55365618hg19UCSC Ensembl
Innerchr19:59989683..60057430hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3867745
hg1967748
hg1867748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3676n100
Supporting Variantsnssv3570345, nssv3570348, nssv3726628, nssv3570347, nssv3570353, nssv3570346, nssv3570351, nssv3570349, nssv3570350, nssv3570352
Samples
Known GenesKIR2DL4, 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)nsv1056921
Frequency
Sample Size29084
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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