A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1798191



Internal ID17764573
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 StatusS
Merged Variantsnsv946413
Supporting Variants
SamplesHGDP00542
Known GenesFDPS, RUSC1, RUSC1-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1798191
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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