A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547606



Internal ID321435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137300977..137300977hg38UCSC Ensembl
chr7:136985724..136985724hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38562
hg19562
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003317
Samples
Known GenesPTN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547606
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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