A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008965



Internal ID18751496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:133303486..134451957hg38UCSC Ensembl
Innerchr2:134061058..135209528hg19UCSC Ensembl
Innerchr2:133777528..134925998hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg381148472
hg191148471
hg181148471
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582789
Samples
Known GenesMGAT5, MIR3679, MIR7853, NCKAP5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008965
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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