A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969626



Internal ID22744561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:36044426..36044426hg38UCSC Ensembl
chr19:36535328..36535328hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401678
Samples
Known GenesTHAP8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969626
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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