A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17441173



Internal ID22499043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:83500336..83554876hg38UCSC Ensembl
chr7:83129652..83184192hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3854541
hg1954541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5926056
Supporting Variants
Samples
Known GenesSEMA3E
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17441173
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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