A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17501609



Internal ID22559547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135030567..135032366hg38UCSC Ensembl
chr6:135351705..135353504hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5844382
Supporting Variants
Samples
Known GenesHBS1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17501609
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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