A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2197844



Internal ID17883754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111867857..111875358hg38UCSC Ensembl
Innerchr2:112625434..112632935hg19UCSC Ensembl
Innerchr2:112341905..112349406hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg387502
hg197502
hg187502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv961487
Supporting Variants
SamplesHGDP01307
Known GenesANAPC1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2197844
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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