A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067104



Internal ID18809635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54756764..54835875hg38UCSC Ensembl
Innerchr19:55268216..55347330hg19UCSC Ensembl
Innerchr19:59960028..60039142hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3879112
hg1979115
hg1879115
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3671n100
Supporting Variantsnssv3574632, nssv3574631
Samples
Known GenesKIR2DL1, KIR2DL4, KIR2DS4, KIR3DL1, LOC100287534
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067104
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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