A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1750637



Internal ID17793899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1496988..1530206hg38UCSC Ensembl
Innerchr1:1432368..1465586hg19UCSC Ensembl
Innerchr1:1422231..1455449hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3833219
hg1933219
hg1833219
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945744
Supporting Variants
SamplesHGDP00778
Known GenesATAD3A
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)nssv1750637
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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