A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17365308



Internal ID22590977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180500922..180500993hg38UCSC Ensembl
chr1:180470057..180470128hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5883612
Supporting Variants
Samples
Known GenesACBD6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17365308
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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