A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488713



Internal ID266012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:56734060..56909742hg38UCSC Ensembl
chr7:56801753..56977433hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38175683
hg19175681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16996752
Samples
Known GenesLOC100130849
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488713
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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