A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947917



Internal ID18248077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:45792769..45863213hg38UCSC Ensembl
Innerchr10:46288217..46358661hg19UCSC Ensembl
Innerchr10:45608223..45678667hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3870445
hg1970445
hg1870445
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1846281, nssv1846290, nssv1846285, nssv1846282, nssv1846286, nssv1846283, nssv1846288, nssv1846284, nssv1846289, nssv1846287
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesAGAP4, FAM21C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947917
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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