A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701869



Internal ID15091835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:5743813..5800262hg38UCSC Ensembl
Innerchr19:5743824..5800273hg19UCSC Ensembl
Innerchr19:5694824..5751273hg18UCSC Ensembl
Innerchr19:5694824..5751273hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3856450
hg1956450
hg1856450
hg1756450
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525707
Supporting Variants
Samples
Known GenesCATSPERD, DUS3L, PRR22
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701869
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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