A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948643



Internal ID22724120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:98357021..98357021hg38UCSC Ensembl
chr7:97986333..97986333hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17446953
Samples
Known GenesBAIAP2L1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948643
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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