A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2614485



Internal ID17496092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50003319..50009992hg38UCSC Ensembl
Innerchr10:51763079..51769752hg19UCSC Ensembl
Innerchr10:51433085..51439758hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg386674
hg196674
hg186674
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975702
Supporting Variants
SamplesHGDP00998
Known GenesAGAP6
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)nssv2614485
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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