A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17381642



Internal ID22439512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94139567..94140635hg38UCSC Ensembl
chr13:94791821..94792889hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg381069
hg191069
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5979016
Supporting Variants
Samples
Known GenesGPC6
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17381642
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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