A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17390380



Internal ID22448250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38118795..38120404hg38UCSC Ensembl
chr19:38609435..38611044hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg381610
hg191610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5946754
Supporting Variants
Samples
Known GenesSIPA1L3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17390380
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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