A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5572496



Internal ID21520887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100216693..100343965hg38UCSC Ensembl
chr7:99814316..99941588hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38127273
hg19127273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17152978
SamplesHG01596
Known GenesGATS, PMS2P1, PVRIG, SPDYE3, STAG3L5P, STAG3L5P-PVRIG2P-PILRB
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5572496
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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