A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15202621



Internal ID21341427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149803478..149803478hg38UCSC Ensembl
chr6:150124614..150124614hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3942717
Supporting Variants
SamplesHG002
Known GenesPCMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15202621
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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