A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378122



Internal ID22435992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29125915..29127820hg38UCSC Ensembl
chr17:27452933..27454838hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381906
hg191906
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929003
Supporting Variants
Samples
Known GenesMYO18A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378122
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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