A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17441978



Internal ID22499848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6562552..6562552hg38UCSC Ensembl
chr8:6420073..6420073hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5948904
Supporting Variants
Samples
Known GenesANGPT2, MCPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17441978
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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