A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420041



Internal ID199157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74580081..74580158hg38UCSC Ensembl
chr1:75045765..75045842hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904680
Samples
Known GenesC1orf173
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420041
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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