A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959163



Internal ID19217403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:132222827..132260727hg38UCSC Ensembl
Outerchr2:132980400..133018300hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3837901
hg1937901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118649
Supporting Variants
SamplesKWS1
Known GenesANKRD30BL, MIR663B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959163
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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