A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946754



Internal ID22722250
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 StatusM
Merged Variants
Supporting Variantsnssv17390380
Samples
Known GenesSIPA1L3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946754
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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