A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17454976



Internal ID22512853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113298949..113302829hg38UCSC Ensembl
chr13:113953264..113957144hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg383881
hg193881
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5849420
Supporting Variants
Samples
Known GenesLAMP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17454976
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