A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6414589



Internal ID21072142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147976944..148105893hg38UCSC Ensembl
chr5:147356507..147485456hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38128950
hg19128950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18126720
Samples
Known GenesSPINK5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6414589
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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