A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1779703



Internal ID17747084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104705430..104710426hg38UCSC Ensembl
Innerchr1:105248052..105253048hg19UCSC Ensembl
Innerchr1:105049575..105054571hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg384997
hg194997
hg184997
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946113
Supporting Variants
SamplesHGDP00521
Known Genes
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)nssv1779703
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