A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14322147



Internal ID22118597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94953923..94953993hg38UCSC Ensembl
chr5:94289627..94289697hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204924
Supporting Variants
SamplesHG00512
Known GenesMCTP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14322147
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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