A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3549122



Internal ID18500717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:23335983..23534157hg38UCSC Ensembl
Innerchr16:23347304..23545478hg19UCSC Ensembl
Innerchr16:23254805..23452979hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38198175
hg19198175
hg18198175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1064712
Supporting Variants
Samples
Known GenesCOG7, EARS2, GGA2, SCNN1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3549122
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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