A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv899973



Internal ID15847243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47428355..47658874hg38UCSC Ensembl
Innerchr19:47931612..48162131hg19UCSC Ensembl
Innerchr19:52623424..52853943hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38230520
hg19230520
hg18230520
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv579888
Supporting Variants
Samples
Known GenesGLTSCR1, KPTN, NAPA, NAPA-AS1, SLC8A2, ZNF541
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv899973
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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