A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17386448



Internal ID22444318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49011598..49012920hg38UCSC Ensembl
chr17:47088960..47090282hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg381323
hg191323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5935149
Supporting Variants
Samples
Known GenesIGF2BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17386448
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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