A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5917718



Internal ID22692938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76448810..76946858hg38UCSC Ensembl
chr7:76078127..76576175hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38498049
hg19498049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1909n209
Supporting Variantsnssv17439511
Samples
Known GenesDTX2, FDPSP2, LOC100133091, POMZP3, UPK3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5917718
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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