A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000049



Internal ID19186675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:236382256..236388957hg38UCSC Ensembl
Outerchr2:237290899..237297600hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg386702
hg196702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147273
Supporting Variants
SamplesKWB1
Known GenesIQCA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000049
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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