A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977212



Internal ID22752147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34832212..34832212hg38UCSC Ensembl
chr14:35301418..35301418hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387470
Samples
Known GenesBAZ1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977212
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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