A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977290



Internal ID19220433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113665145..113665211hg38UCSC Ensembl
Outerchr12:114102950..114103016hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139704
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977290
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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