A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947818



Internal ID18594665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:31913239..31916093hg38UCSC Ensembl
Innerchr10:32202167..32205021hg19UCSC Ensembl
Innerchr10:32242173..32245027hg18UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg382855
hg192855
hg182855
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1836907, nssv1836905, nssv1836912, nssv1836908, nssv1836906, nssv1836911, nssv1836909, nssv1836910, nssv1836914, nssv1836913
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesARHGAP12
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947818
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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