A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15191854



Internal ID21330710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7199853..7199853hg38UCSC Ensembl
chr12:7352449..7352449hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3935226
Supporting Variants
SamplesHG002
Known GenesPEX5
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15191854
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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