A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056983



Internal ID18799514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54786419..54856896hg38UCSC Ensembl
Innerchr19:55297871..55368351hg19UCSC Ensembl
Innerchr19:59989683..60060163hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3870478
hg1970481
hg1870481
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3675n100
Supporting Variantsnssv3570355, nssv3570354, nssv3726629, nssv3726630
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)nsv1056983
Frequency
Sample Size29084
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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