A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006526



Internal ID18749057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:3424737..3499795hg38UCSC Ensembl
Innerchr2:3428508..3503566hg19UCSC Ensembl
Innerchr2:3407515..3482573hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3875059
hg1975059
hg1875059
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3571297
Samples
Known GenesADI1, TRAPPC12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006526
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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