A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5966638



Internal ID22741573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23252195..23252195hg38UCSC Ensembl
chr8:23109708..23109708hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17438322
Samples
Known GenesCHMP7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5966638
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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