A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001767



Internal ID18744298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:3391516..3681159hg38UCSC Ensembl
Innerchr2:3395287..3728749hg19UCSC Ensembl
Innerchr2:3374294..3706624hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38289644
hg19333463
hg18332331
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3702n100
Supporting Variantsnssv3571296
Samples
Known GenesADI1, ALLC, COLEC11, RNASEH1, RNASEH1-AS1, RPS7, TRAPPC12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001767
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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