A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17408265



Internal ID22466135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29288958..29288958hg38UCSC Ensembl
chr2:29511824..29511824hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5957470
Supporting Variants
Samples
Known GenesALK
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17408265
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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