A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6408507



Internal ID21066060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148082901..148084200hg38UCSC Ensembl
chr5:147462464..147463763hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213270
Samples
Known GenesSPINK5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6408507
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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