A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131047



Internal ID18933128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120368997..120369397hg38UCSC Ensembl
Outerchr12:120806800..120807200hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967752
SamplesKWS2
Known GenesMSI1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131047
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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