A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17505730



Internal ID22563674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38219373..38223886hg38UCSC Ensembl
chr6:38187149..38191662hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg384514
hg194514
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5844952
Supporting Variants
Samples
Known GenesBTBD9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17505730
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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