A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060805



Internal ID18803336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75520124..75546223hg38UCSC Ensembl
Innerchr16:75554022..75580121hg19UCSC Ensembl
Innerchr16:74111523..74137622hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3826100
hg1926100
hg1826100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3559626, nssv3559625
Samples
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060805
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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