A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6536596



Internal ID20909942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:153997341..155671570hg38UCSC Ensembl
chr2:154853854..156528082hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg381674230
hg191674229
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18254641
Samples
Known GenesGALNT13, KCNJ3, LOC100144595
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6536596
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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