A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2614966



Internal ID17869035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:73675416..73681394hg38UCSC Ensembl
Innerchr10:75435174..75441152hg19UCSC Ensembl
Innerchr10:75105180..75111158hg18UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg385979
hg195979
hg185979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974949
Supporting Variants
SamplesHGDP01284
Known GenesAGAP5
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)nssv2614966
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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