A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436775



Internal ID215383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178820317..178969065hg38UCSC Ensembl
chr2:179685044..179833792hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38148749
hg19148749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922600
Samples
Known GenesCCDC141
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436775
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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