A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17495239



Internal ID22553172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:46377484..46379892hg38UCSC Ensembl
chr4:46379501..46381909hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg382409
hg192409
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5839611
Supporting Variants
Samples
Known GenesGABRA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17495239
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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