A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057545



Internal ID18800076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48224334..48252973hg38UCSC Ensembl
Innerchr19:48727591..48756230hg19UCSC Ensembl
Innerchr19:53419403..53448042hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3828640
hg1928640
hg1828640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3613n100
Supporting Variantsnssv3574940
Samples
Known GenesCARD8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057545
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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