A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240191



Internal ID22374630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137856778..138124574hg38UCSC Ensembl
chr5:137192467..137460263hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38267797
hg19267797
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14325723
SamplesHG00513
Known GenesFAM13B, MYOT, NME5, PKD2L2, WNT8A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240191
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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