A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15201988



Internal ID21340791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49701610..49701610hg38UCSC Ensembl
chr6:49669323..49669323hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3946369
Supporting Variants
SamplesHG002
Known GenesCRISP2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15201988
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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