A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17461860



Internal ID22519746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174804553..174827276hg38UCSC Ensembl
chr1:174773691..174796414hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3822724
hg1922724
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5828553
Supporting Variants
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17461860
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer