A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521005



Internal ID15101612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1782799..1784945hg38UCSC Ensembl
Innerchr19:1782798..1784944hg19UCSC Ensembl
Innerchr19:1733798..1735944hg18UCSC Ensembl
Innerchr19:1733798..1735944hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382147
hg192147
hg182147
hg172147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv680321, nssv684618, nssv679662, nssv686001
Samples
Known GenesATP8B3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521005
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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