A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998380



Internal ID18811230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:52664568..52995017hg38UCSC Ensembl
Innerchr2:52891706..53222155hg19UCSC Ensembl
Innerchr2:52745210..53075659hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38330450
hg19330450
hg18330450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3576596
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998380
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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