A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1798330



Internal ID17739340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149811551..149812847hg38UCSC Ensembl
Innerchr1:149783106..149784402hg19UCSC Ensembl
Innerchr1:148049730..148051026hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg381297
hg191297
hg181297
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946377
Supporting Variants
SamplesHGDP00456
Known GenesHIST2H2BF
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)nssv1798330
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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