A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476553



Internal ID254159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100674973..100675551hg38UCSC Ensembl
chr7:100272596..100273174hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38579
hg19579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000158
Samples
Known GenesGNB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476553
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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