A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17425011



Internal ID22482881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170390514..170390514hg38UCSC Ensembl
chr5:169817518..169817518hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5963618
Supporting Variants
Samples
Known GenesKCNIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17425011
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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