A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17505791



Internal ID22563735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42957892..42976087hg38UCSC Ensembl
chr6:42925630..42943825hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3818196
hg1918196
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5844903
Supporting Variants
Samples
Known GenesGNMT, PEX6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17505791
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