A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998714



Internal ID19190433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:132245226..132260727hg38UCSC Ensembl
Outerchr2:133002799..133018300hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3815502
hg1915502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149928
Supporting Variants
SamplesKWB1
Known GenesANKRD30BL, MIR663B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998714
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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