A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2669358



Internal ID17440113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:112384326..112385155hg38UCSC Ensembl
Innerchr2:113141903..113142732hg19UCSC Ensembl
Innerchr2:112858374..112859203hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38830
hg19830
hg18830
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963835
Supporting Variants
SamplesHGDP00665
Known GenesRGPD5, RGPD8
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2669358
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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