A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600148



Internal ID18551743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34528992..34767397hg38UCSC Ensembl
Innerchr21:35901290..36139694hg19UCSC Ensembl
Innerchr21:34823160..35061564hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38238406
hg19238405
hg18238405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055971
Supporting Variants
Samples
Known GenesCLIC6, LINC00160, LOC100506385, RCAN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600148
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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