A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931812



Internal ID22707102
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 StatusM
Merged Variants
Supporting Variantsnssv17380893
Samples
Known GenesBCAR1, CFDP1, CTRB1, CTRB2, LDHD, TMEM170A, WDR59, ZFP1, ZNRF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931812
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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