A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1800767



Internal ID17797715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155234505..155238170hg38UCSC Ensembl
Innerchr1:155204296..155207961hg19UCSC Ensembl
Innerchr1:153470920..153474585hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg383666
hg193666
hg183666
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946412
Supporting Variants
SamplesHGDP00778
Known GenesGBA
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)nssv1800767
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer