A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15201220



Internal ID21340024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:146728826..146728826hg38UCSC Ensembl
chr4:147649978..147649978hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3933450
Supporting Variants
SamplesHG002
Known GenesTTC29
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15201220
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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