A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478988



Internal ID256529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129445758..129446744hg38UCSC Ensembl
chr7:129085599..129086585hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38987
hg19987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003144
Samples
Known GenesSTRIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478988
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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