A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415844



Internal ID195092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174833865..174850090hg38UCSC Ensembl
chr1:174803003..174819228hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3816226
hg1916226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892591
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415844
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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