A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948224



Internal ID18595070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:125920261..125924877hg38UCSC Ensembl
Innerchr10:127608830..127613446hg19UCSC Ensembl
Innerchr10:127598820..127603436hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg384617
hg194617
hg184617
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1869680, nssv1869687, nssv1869679, nssv1869681, nssv1869682, nssv1869688, nssv1869683, nssv1869684, nssv1869685, nssv1869686
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFANK1
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948224
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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