A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407958



Internal ID187288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100174945..100174996hg38UCSC Ensembl
chr7:99772568..99772619hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000506
Samples
Known GenesGPC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407958
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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