A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423055



Internal ID202082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:144904587..144913587hg38UCSC Ensembl
chr1:206558789..206567535hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg389001
hg198747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889797
Samples
Known GenesSRGAP2, SRGAP2B, SRGAP2C, SRGAP2D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423055
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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