A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149928



Internal ID19195877
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 StatusM
Merged Variants
Supporting Variantsnssv3998714
SamplesKWB1
Known GenesANKRD30BL, MIR663B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149928
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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