A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2448391



Internal ID17869761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:54934120..54939396hg38UCSC Ensembl
Innerchr7:55001813..55007089hg19UCSC Ensembl
Innerchr7:54969307..54974583hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg385277
hg195277
hg185277
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970479
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)nssv2448391
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer