A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112379



Internal ID18913146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11914395..12871920hg38UCSC Ensembl
Outerchr3:11955869..12913419hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38957526
hg19957551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3966459
SamplesKWS2
Known GenesC3orf83, CAND2, MKRN2, PPARG, RAF1, RPL32, SNORA7A, SYN2, TIMP4, TMEM40, TSEN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112379
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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