A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2467521



Internal ID17808660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:85381073..85382922hg38UCSC Ensembl
Innerchr7:85010389..85012238hg19UCSC Ensembl
Innerchr7:84848325..84850174hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg381850
hg191850
hg181850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981543
Supporting Variants
SamplesHGDP00778
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)nssv2467521
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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