A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17454321



Internal ID22512197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100052414..100055638hg38UCSC Ensembl
chr1:100517970..100521194hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg383225
hg193225
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5827765
Supporting Variants
Samples
Known GenesHIAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17454321
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