A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057953



Internal ID18800484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48224334..48256972hg38UCSC Ensembl
Innerchr19:48727591..48760229hg19UCSC Ensembl
Innerchr19:53419403..53452041hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3832639
hg1932639
hg1832639
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3613n100
Supporting Variantsnssv3574943, nssv3574944, nssv3574945
Samples
Known GenesCARD8, LOC100505812
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057953
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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