A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414980



Internal ID194245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100130592..100130711hg38UCSC Ensembl
chr1:100596148..100596267hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908607
Samples
Known GenesSASS6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414980
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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