A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5966490



Internal ID22741425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38946062..38946062hg38UCSC Ensembl
chr6:38913838..38913838hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436238
Samples
Known GenesDNAH8, LOC100131047
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5966490
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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