A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1767639



Internal ID17745988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52169929..52182878hg38UCSC Ensembl
Innerchr1:52635601..52648550hg19UCSC Ensembl
Innerchr1:52408189..52421138hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3812950
hg1912950
hg1812950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945946
Supporting Variants
SamplesHGDP00521
Known GenesZFYVE9
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)nssv1767639
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