A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2507305



Internal ID17805608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:69129795..69131668hg38UCSC Ensembl
Innerchr8:70042030..70043903hg19UCSC Ensembl
Innerchr8:70204584..70206457hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg381874
hg191874
hg181874
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971318
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv2507305
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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