A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524934



Internal ID22394309
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14321526, nssv14321523, nssv14321524, nssv14321525
SamplesNA19238, HG00731, HG00733, HG00513
Known GenesMOCS2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524934
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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