A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1768498



Internal ID17828691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:56537413..56539795hg38UCSC Ensembl
Innerchr1:57003085..57005467hg19UCSC Ensembl
Innerchr1:56775673..56778055hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg382383
hg192383
hg182383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945965
Supporting Variants
SamplesHGDP00998
Known GenesPPAP2B
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)nssv1768498
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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