A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17383340



Internal ID22441210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6651120..6651120hg38UCSC Ensembl
chr17:6554440..6554440hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5974626
Supporting Variants
Samples
Known GenesMED31
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17383340
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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