A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976476



Internal ID19230498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:43040..45739hg38UCSC Ensembl
Outerchr12:60000..62700hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382700
hg192701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115423
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976476
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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