A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124818



Internal ID19283498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:132222927..132364027hg38UCSC Ensembl
Outerchr2:132980500..133121600hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38141101
hg19141101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976872
SamplesKWS2
Known GenesANKRD30BL, MIR663B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124818
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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