A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3962596



Internal ID19210947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132496916..132496996hg38UCSC Ensembl
Outerchr12:133073502..133073582hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129166
Supporting Variants
SamplesKWS1
Known GenesFBRSL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3962596
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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