A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2466317



Internal ID17839557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76470187..76472170hg38UCSC Ensembl
Innerchr7:76099504..76101487hg19UCSC Ensembl
Innerchr7:75937440..75939423hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381984
hg191984
hg181984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970894
Supporting Variants
SamplesHGDP00998
Known GenesDTX2, FDPSP2
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)nssv2466317
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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