A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6381408



Internal ID21038961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145492545..145497078hg38UCSC Ensembl
chr4:146413697..146418230hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg384534
hg194534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18108885
Samples
Known GenesSMAD1, SMAD1-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6381408
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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