A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17409656



Internal ID22467526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136240919..136240919hg38UCSC Ensembl
chr6:136562057..136562057hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5966403
Supporting Variants
Samples
Known GenesMTFR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17409656
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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