A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17373654



Internal ID22599323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45847702..45851879hg38UCSC Ensembl
chr17:43925068..43929245hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384178
hg194178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936166
Supporting Variants
Samples
Known GenesMAPT-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17373654
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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