A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15749332



Internal ID21386399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44252074..44253971hg38UCSC Ensembl
chr17:42329442..42331339hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381898
hg191898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4432536
Supporting Variants
SamplesMDQ010
Known GenesSLC4A1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15749332
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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