A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6544043



Internal ID20917283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39493181..39787246hg38UCSC Ensembl
chr1:39958853..40252918hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38294066
hg19294066
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv162n223
Supporting Variantsnssv18253073
Samples
Known GenesBMP8A, BMP8B, HEYL, HPCAL4, NT5C1A, OXCT2, PABPC4, PPIE, PPIEL, SNORA55
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6544043
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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