A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729159



Internal ID18680754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97242637..97665171hg38UCSC Ensembl
Innerchr2:97908374..98281634hg19UCSC Ensembl
Innerchr2:97272092..97648066hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38422535
hg19373261
hg18375975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005846
Supporting Variants
Samples
Known GenesACTR1B, ANKRD36, ANKRD36B, COX5B, LOC100506076, LOC100506123
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3729159
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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