A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996714



Internal ID19192598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:79039619..79045220hg38UCSC Ensembl
Outerchr12:79433399..79439000hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg385602
hg195602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152109
Supporting Variants
SamplesKWB1
Known GenesSYT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996714
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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