A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946413



Internal ID18593263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155317158..155326869hg38UCSC Ensembl
Innerchr1:155286949..155296660hg19UCSC Ensembl
Innerchr1:153553573..153563284hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg389712
hg199712
hg189712
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1798192, nssv1798187, nssv1798188, nssv1798186, nssv1798190, nssv1798193, nssv1798191, nssv1798194, nssv1798189, nssv1798185
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFDPS, RUSC1, RUSC1-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946413
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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