A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971757



Internal ID18260288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50002888..50008912hg38UCSC Ensembl
Innerchr10:51226264..51232289hg19UCSC Ensembl
Innerchr10:50896270..50902295hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg386025
hg196026
hg186026
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2615095, nssv2615091, nssv2615098, nssv2615096, nssv2615089, nssv2615090, nssv2615097, nssv2615093, nssv2615092, nssv2615094
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)nsv971757
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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