A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997346



Internal ID18810196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91670911..91961933hg38UCSC Ensembl
Innerchr2:91858937..92149959hg19UCSC Ensembl
Innerchr2:91222664..91513686hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38291023
hg19291023
hg18291023
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3579535
Samples
Known GenesACTR3BP2, GGT8P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997346
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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