A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17446403



Internal ID22504273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:97220708..97220708hg38UCSC Ensembl
chr6:97668584..97668584hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5951912
Supporting Variants
Samples
Known GenesMIR548H3, MMS22L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17446403
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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