A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6548927



Internal ID20922105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113868860..113869414hg38UCSC Ensembl
chr1:114411482..114412036hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38555
hg19555
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18249233
Samples
Known GenesAP4B1-AS1, PTPN22
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6548927
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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