A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000477



Internal ID18743008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:120103257..120287829hg38UCSC Ensembl
Innerchr2:120860833..121045405hg19UCSC Ensembl
Innerchr2:120577303..120761875hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38184573
hg19184573
hg18184573
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729220
Samples
Known GenesEPB41L5, RALB, TMEM185B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000477
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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