A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147289



Internal ID346471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:122816841..122822673hg38UCSC Ensembl
chr7:122456895..122462727hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg385833
hg195833
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003427
Samples
Known GenesCADPS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147289
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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