A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6539673



Internal ID20912968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48670156..48670895hg38UCSC Ensembl
chr2:48897295..48898034hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38740
hg19740
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18258697
Samples
Known GenesGTF2A1L, STON1-GTF2A1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6539673
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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