A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3946914



Internal ID21366984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53129453..53129931hg38UCSC Ensembl
chr1:53595125..53595603hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15182368
SamplesHG002
Known GenesSLC1A7
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3946914
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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