A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17373228



Internal ID22598897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30623218..30625579hg38UCSC Ensembl
chr17:28950236..28952597hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382362
hg192362
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5969068
Supporting Variants
Samples
Known GenesLRRC37BP1, SH3GL1P2
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17373228
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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