A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063983



Internal ID18806514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54289334..54592227hg38UCSC Ensembl
Innerchr19:54793188..55103692hg19UCSC Ensembl
Innerchr19:59485000..59795504hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38302894
hg19310505
hg18310505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3663n100
Supporting Variantsnssv3573420
Samples
Known GenesCDC42EP5, KIR3DX1, LAIR1, LAIR2, LENG8, LENG9, LILRA2, LILRA3, LILRA4, LILRA5, TTYH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063983
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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