A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv684598



Internal ID15074564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55354159..55385959hg38UCSC Ensembl
Innerchr19:55865527..55897327hg19UCSC Ensembl
Innerchr19:60557339..60589139hg18UCSC Ensembl
Innerchr19:60557339..60589139hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3831801
hg1931801
hg1831801
hg1731801
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516199
Supporting Variants
Samples
Known GenesCOX6B2, FAM71E2, IL11, RPL28, TMEM190, TMEM238
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv684598
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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