A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1767550



Internal ID17812032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52152413..52161152hg38UCSC Ensembl
Innerchr1:52618085..52626824hg19UCSC Ensembl
Innerchr1:52390673..52399412hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg388740
hg198740
hg188740
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945945
Supporting Variants
SamplesHGDP00927
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)nssv1767550
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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