A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17499643



Internal ID22557579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145497701..145505348hg38UCSC Ensembl
chr4:146418853..146426500hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg387648
hg197648
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5838287
Supporting Variants
Samples
Known GenesSMAD1, SMAD1-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17499643
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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