A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144640



Internal ID18912350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:76041234..76041319hg38UCSC Ensembl
Outerchr12:76435014..76435099hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3995498
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144640
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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