A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562329



Internal ID335287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66583044..66760016hg38UCSC Ensembl
chr7:66048031..66225003hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38176973
hg19176973
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997212
Samples
Known GenesKCTD7, RABGEF1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562329
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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