A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv655362



Internal ID15045328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54102901..54179150hg38UCSC Ensembl
Innerchr19:54606209..54682867hg19UCSC Ensembl
Innerchr19:59298021..59374679hg18UCSC Ensembl
Innerchr19:59298021..59374679hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3876250
hg1976659
hg1876659
hg1776659
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515623
Supporting Variants
Samples
Known GenesCNOT3, LENG1, MBOAT7, NDUFA3, PRPF31, TFPT, TMC4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv655362
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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