A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2612391



Internal ID17872407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:45824376..45833168hg38UCSC Ensembl
Innerchr10:46319824..46328616hg19UCSC Ensembl
Innerchr10:45639830..45648622hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg388793
hg198793
hg188793
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974928
Supporting Variants
SamplesHGDP01284
Known GenesAGAP4
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)nssv2612391
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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