A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699691



Internal ID15089657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39422918..39506832hg38UCSC Ensembl
Innerchr19:39913558..39997472hg19UCSC Ensembl
Innerchr19:44605398..44689312hg18UCSC Ensembl
Innerchr19:44605398..44689312hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3883915
hg1983915
hg1883915
hg1783915
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523856
Supporting Variants
Samples
Known GenesDLL3, PLEKHG2, RPS16, SUPT5H, TIMM50
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699691
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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