A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3951814



Internal ID21371883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132208421..132208421hg38UCSC Ensembl
chr5:131544114..131544114hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15202273
SamplesHG002
Known GenesP4HA2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3951814
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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