A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2187064



Internal ID17848698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94753162..94858333hg38UCSC Ensembl
Innerchr2:95418907..95524078hg19UCSC Ensembl
Innerchr2:94782634..94887805hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38105172
hg19105172
hg18105172
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963659
Supporting Variants
SamplesHGDP01029
Known GenesANKRD20A8P, FAM95A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2187064
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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