A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17421387



Internal ID22479257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135030789..135032327hg38UCSC Ensembl
chr6:135351927..135353465hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381539
hg191539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5896536
Supporting Variants
Samples
Known GenesHBS1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17421387
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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