A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2476546



Internal ID17886329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:124475976..124477926hg38UCSC Ensembl
Innerchr7:124116030..124117980hg19UCSC Ensembl
Innerchr7:123903266..123905216hg18UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg381951
hg191951
hg181951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970934
Supporting Variants
SamplesHGDP01307
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)nssv2476546
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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