A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1829482



Internal ID17744664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248916792..248936992hg38UCSC Ensembl
Innerchr1:249210991..249231191hg19UCSC Ensembl
Innerchr1:247177614..247197814hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3820201
hg1920201
hg1820201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945482
Supporting Variants
SamplesHGDP00521
Known GenesPGBD2
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)nssv1829482
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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