A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492990



Internal ID270183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:67275319..67410698hg38UCSC Ensembl
chr7:66740306..66875685hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38135380
hg19135380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997959
Samples
Known GenesLOC101929736, PMS2P4, STAG3L4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492990
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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