A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545168



Internal ID319235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100172647..100172689hg38UCSC Ensembl
chr7:99770270..99770312hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000503
Samples
Known GenesGPC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545168
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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