A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15201471



Internal ID21340271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39423334..39423334hg38UCSC Ensembl
chr5:39423436..39423436hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3939880
Supporting Variants
SamplesHG002
Known GenesDAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15201471
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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