A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2435880



Internal ID17490320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:12687948..12689539hg38UCSC Ensembl
Innerchr7:12727573..12729164hg19UCSC Ensembl
Innerchr7:12694098..12695689hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381592
hg191592
hg181592
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970447
Supporting Variants
SamplesHGDP00998
Known GenesARL4A
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)nssv2435880
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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