A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996215



Internal ID19190920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238879858..238882559hg38UCSC Ensembl
Outerchr2:239788499..239791200hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382702
hg192702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150738
Supporting Variants
SamplesKWB1
Known GenesTWIST2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996215
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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