A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6542950



Internal ID20916201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180540213..181074936hg38UCSC Ensembl
chr1:180509349..181044072hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38534724
hg19534724
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18248863
Samples
Known GenesKIAA1614, MR1, STX6, XPR1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6542950
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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