A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055854



Internal ID18798385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:71888241..72048987hg38UCSC Ensembl
Innerchr16:71922144..72082886hg19UCSC Ensembl
Innerchr16:70479645..70640387hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg38160747
hg19160743
hg18160743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3559563
Samples
Known GenesDHODH, IST1, PKD1L3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055854
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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