A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17447542



Internal ID22505412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43375266..43380606hg38UCSC Ensembl
chr7:43414865..43420205hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg385341
hg195341
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5972709
Supporting Variants
Samples
Known GenesHECW1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17447542
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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