A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321524



Internal ID22192445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53102570..53102634hg38UCSC Ensembl
chr5:52398400..52398464hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524934
Supporting Variants
SamplesHG00731
Known GenesMOCS2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321524
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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