A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17452352



Internal ID22510225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1763172..1765271hg38UCSC Ensembl
chr1:1694611..1696710hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5828427
Supporting Variants
Samples
Known GenesNADK
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17452352
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