A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971760



Internal ID18260291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49991917..50000227hg38UCSC Ensembl
Innerchr10:51234952..51243215hg19UCSC Ensembl
Innerchr10:50904958..50913221hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg388311
hg198264
hg188264
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2613255, nssv2613259, nssv2613253, nssv2613251, nssv2613260, nssv2613252, nssv2613258, nssv2613256, nssv2613257, nssv2613254
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)nsv971760
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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