A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17148251



Internal ID21446108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76515456..77046727hg38UCSC Ensembl
chr7:76144773..76676044hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38531272
hg19531272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5567554
Supporting Variants
SamplesHG00732
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100132832, LOC100133091, POMZP3, UPK3B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17148251
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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