A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17396555



Internal ID22454425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179754444..179757769hg38UCSC Ensembl
chr2:180619171..180622496hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg383326
hg193326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894844
Supporting Variants
Samples
Known GenesZNF385B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17396555
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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