A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407522



Internal ID22465392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172486176..172486176hg38UCSC Ensembl
chr2:173350904..173350904hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5962458
Supporting Variants
Samples
Known GenesITGA6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407522
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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