A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325723



Internal ID22133691
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240191
Supporting Variants
SamplesHG00513
Known GenesFAM13B, MYOT, NME5, PKD2L2, WNT8A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325723
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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