A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17442957



Internal ID22500827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17348892..17450578hg38UCSC Ensembl
chr8:17206401..17308087hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38101687
hg19101687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5927153
Supporting Variants
Samples
Known GenesMTMR7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17442957
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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