A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394258



Internal ID22452128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95004781..95005426hg38UCSC Ensembl
chr1:95470337..95470982hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38646
hg19646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5884197
Supporting Variants
Samples
Known GenesALG14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394258
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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