A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978834



Internal ID19238866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:47759982..47760063hg38UCSC Ensembl
Outerchr12:48153765..48153846hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140122
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978834
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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