A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2446547



Internal ID17818235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44467403..44468301hg38UCSC Ensembl
Innerchr7:44507002..44507900hg19UCSC Ensembl
Innerchr7:44473527..44474425hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981461
Supporting Variants
SamplesHGDP00927
Known GenesNUDCD3
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)nssv2446547
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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