A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17455172



Internal ID22513049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174878280..174881973hg38UCSC Ensembl
chr1:174847418..174851111hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg383694
hg193694
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5828744
Supporting Variants
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17455172
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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