A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2460045



Internal ID17875673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66510444..66518911hg38UCSC Ensembl
Innerchr7:65975431..65983898hg19UCSC Ensembl
Innerchr7:65612866..65621333hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg388468
hg198468
hg188468
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970515
Supporting Variants
SamplesHGDP01284
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)nssv2460045
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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