A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147269



Internal ID18855482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11914420..12871937hg38UCSC Ensembl
Outerchr3:11955894..12913436hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38957518
hg19957543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000043
SamplesKWB1
Known GenesC3orf83, CAND2, MKRN2, PPARG, RAF1, RPL32, SNORA7A, SYN2, TIMP4, TMEM40, TSEN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147269
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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