A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947950



Internal ID18248110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46389043..46397687hg38UCSC Ensembl
Innerchr10:47760300..47768953hg19UCSC Ensembl
Innerchr10:47230306..47238959hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg388645
hg198654
hg188654
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1854445, nssv1854444, nssv1854442, nssv1854449, nssv1854443, nssv1854448, nssv1854441, nssv1854447, nssv1854450, nssv1854446
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesANXA8L1, ANXA8L2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947950
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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