A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059816



Internal ID18802347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54297012..54587836hg38UCSC Ensembl
Innerchr19:54805518..55099303hg19UCSC Ensembl
Innerchr19:59497330..59791115hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38290825
hg19293786
hg18293786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3663n100
Supporting Variantsnssv3573421
Samples
Known GenesCDC42EP5, KIR3DX1, LAIR1, LAIR2, LENG8, LENG9, LILRA2, 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)nsv1059816
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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