A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1797096



Internal ID17781046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149655135..149679751hg38UCSC Ensembl
Innerchr1:149626662..149651335hg19UCSC Ensembl
Innerchr1:147893286..147917959hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3824617
hg1924674
hg1824674
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946372
Supporting Variants
SamplesHGDP00665
Known GenesLINC00869
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)nssv1797096
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