A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17450544



Internal ID22508415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174930480..174935725hg38UCSC Ensembl
chr1:174899617..174904862hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg385246
hg195246
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5828746
Supporting Variants
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17450544
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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