A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6540633



Internal ID20913922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48715198..48716467hg38UCSC Ensembl
chr2:48942337..48943606hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg381270
hg191270
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18258700
Samples
Known GenesLHCGR, STON1-GTF2A1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6540633
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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