A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122774



Internal ID18916495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121735441..121735495hg38UCSC Ensembl
Outerchr12:122173347..122173401hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971364
SamplesKWS2
Known GenesTMEM120B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122774
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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