A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700125



Internal ID15090091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49136745..49158770hg38UCSC Ensembl
Innerchr19:49640002..49662027hg19UCSC Ensembl
Innerchr19:54331814..54353839hg18UCSC Ensembl
Innerchr19:54331814..54353839hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3822026
hg1922026
hg1822026
hg1722026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524235
Supporting Variants
Samples
Known GenesHRC, PPFIA3, TRPM4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700125
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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