A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998016



Internal ID18810866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110097146..110222769hg38UCSC Ensembl
Innerchr2:110854723..110980346hg19UCSC Ensembl
Innerchr2:110212012..110337635hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38125624
hg19125624
hg18125624
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4041n100
Supporting Variantsnssv3580189
Samples
Known GenesLINC00116, MALL, NPHP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998016
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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