A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998837



Internal ID18811687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:215982428..216143671hg38UCSC Ensembl
Innerchr2:216847151..217008394hg19UCSC Ensembl
Innerchr2:216555396..216716639hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38161244
hg19161244
hg18161244
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729355
Samples
Known GenesMREG, PECR, TMEM169, XRCC5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998837
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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