A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683287



Internal ID15073253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63564900..63566995hg38UCSC Ensembl
Innerchr20:62196253..62198348hg19UCSC Ensembl
Innerchr20:61666697..61668792hg18UCSC Ensembl
Innerchr20:61666697..61668792hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382096
hg192096
hg182096
hg172096
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517702
Supporting Variants
Samples
Known GenesHELZ2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv683287
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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