A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1775404



Internal ID17746684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89395105..89421407hg38UCSC Ensembl
Innerchr1:89860664..89886966hg19UCSC Ensembl
Innerchr1:89633252..89659554hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3826303
hg1926303
hg1826303
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946062
Supporting Variants
SamplesHGDP00521
Known GenesGBP1P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1775404
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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