A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700178



Internal ID15090144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47726576..47726848hg38UCSC Ensembl
Innerchr20:46355320..46355592hg19UCSC Ensembl
Innerchr20:45788727..45788999hg18UCSC Ensembl
Innerchr20:45788727..45788999hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38273
hg19273
hg18273
hg17273
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524279
Supporting Variants
Samples
Known GenesSULF2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700178
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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