A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17383306



Internal ID22441176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39430414..39430739hg38UCSC Ensembl
chr17:37586667..37586992hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5931895
Supporting Variants
Samples
Known GenesMED1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17383306
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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