A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063979



Internal ID18806510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41916194..41987372hg38UCSC Ensembl
Innerchr19:42420346..42491524hg19UCSC Ensembl
Innerchr19:47112186..47183364hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3871179
hg1971179
hg1871179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3550n100
Supporting Variantsnssv3722782, nssv3722783, nssv3567539, nssv3567538, nssv3567540
Samples
Known GenesATP1A3, RABAC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063979
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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