A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463305



Internal ID22521191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45616964..45623581hg38UCSC Ensembl
chr1:46082636..46089253hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg386618
hg196618
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830027
Supporting Variants
Samples
Known GenesCCDC17, NASP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463305
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