A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055164



Internal ID18797695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1246647..1389804hg38UCSC Ensembl
Innerchr19:1246646..1389803hg19UCSC Ensembl
Innerchr19:1197646..1340803hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38143158
hg19143158
hg18143158
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564602
Samples
Known GenesC19orf24, CIRBP, CIRBP-AS1, EFNA2, MIDN, MUM1, NDUFS7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055164
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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