A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983287



Internal ID18863026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:111319083..111319142hg38UCSC Ensembl
Outerchr12:111756887..111756946hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145622
Supporting Variants
SamplesKWS1
Known GenesCUX2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983287
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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