A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2170394



Internal ID17505572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47160213..47160713hg38UCSC Ensembl
Innerchr2:47387352..47387852hg19UCSC Ensembl
Innerchr2:47240856..47241356hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979001
Supporting Variants
SamplesHGDP01029
Known GenesCALM2
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)nssv2170394
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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