A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17383512



Internal ID22441382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88423674..88423830hg38UCSC Ensembl
chr14:88890018..88890174hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5933139
Supporting Variants
Samples
Known GenesSPATA7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17383512
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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