A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2469907



Internal ID17746663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:93669233..93670494hg38UCSC Ensembl
Innerchr7:93298545..93299806hg19UCSC Ensembl
Innerchr7:93136481..93137742hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg381262
hg191262
hg181262
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981548
Supporting Variants
SamplesHGDP00521
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)nssv2469907
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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