A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407634



Internal ID22465504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171976903..171977203hg38UCSC Ensembl
chr2:172841842..172842142hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893400
Supporting Variants
Samples
Known GenesHAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407634
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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