A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974943



Internal ID18263466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49985224..49991917hg38UCSC Ensembl
Innerchr10:51243215..51249915hg19UCSC Ensembl
Innerchr10:50913221..50919921hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg386694
hg196701
hg186701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2613337, nssv2613334, nssv2613333, nssv2613332, nssv2613336, nssv2613340, nssv2613335, nssv2613339, nssv2613338, nssv2613341
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesAGAP8, PARG
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974943
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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