A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17514252



Internal ID22572210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:72684077..72685176hg38UCSC Ensembl
chr9:75298993..75300092hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5859035
Supporting Variants
Samples
Known GenesTMC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17514252
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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