A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547064



Internal ID20920269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247397134..247762205hg38UCSC Ensembl
chr1:247560436..247925507hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38365072
hg19365072
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18251508
Samples
Known GenesGCSAML, GCSAML-AS1, NLRP3, OR13G1, OR1C1, OR2B11, OR2C3, OR2G2, OR2G3, OR2W5, OR6F1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547064
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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