A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15184833



Internal ID21323631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2035388..2035388hg38UCSC Ensembl
chr17:1938682..1938682hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3954460
Supporting Variants
SamplesHG002
Known GenesDPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15184833
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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