A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2463312



Internal ID17851679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74973701..75019909hg38UCSC Ensembl
Innerchr7:74387851..74434077hg19UCSC Ensembl
Innerchr7:74025787..74072013hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3846209
hg1946227
hg1846227
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv981530
Supporting Variants
SamplesHGDP01029
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2463312
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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