A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5847370



Internal ID22622305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6008721..6009820hg38UCSC Ensembl
chr7:6048352..6049451hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17508296
Samples
Known GenesAIMP2, PMS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5847370
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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