A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17487541



Internal ID22545457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60988482..60999565hg38UCSC Ensembl
chr2:61215617..61226700hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3811084
hg1911084
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5833672
Supporting Variants
Samples
Known GenesPUS10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17487541
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