A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948064



Internal ID18248224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:73005748..73007736hg38UCSC Ensembl
Innerchr10:74765506..74767494hg19UCSC Ensembl
Innerchr10:74435512..74437500hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381989
hg191989
hg181989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1858361, nssv1858358, nssv1858360, nssv1858357, nssv1858364, nssv1858356, nssv1858362, nssv1858363, nssv1858359, nssv1858355
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesP4HA1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948064
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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