A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15177381



Internal ID21316177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38123801..38123879hg38UCSC Ensembl
chr19:38614441..38614519hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3931860
Supporting Variants
SamplesHG002
Known GenesSIPA1L3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15177381
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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