A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17488016



Internal ID22545933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:72502003..72505252hg38UCSC Ensembl
chr2:72729132..72732381hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg383250
hg193250
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5833716
Supporting Variants
Samples
Known GenesEXOC6B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17488016
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