A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380893



Internal ID22438763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:74874044..75453217hg38UCSC Ensembl
chr16:74907942..75487115hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38579174
hg19579174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5931812
Supporting Variants
Samples
Known GenesBCAR1, CFDP1, CTRB1, CTRB2, LDHD, TMEM170A, WDR59, ZFP1, ZNRF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380893
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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