A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17367607



Internal ID22593276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96294611..96294611hg38UCSC Ensembl
chr12:96688389..96688389hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5974760
Supporting Variants
Samples
Known GenesCDK17
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17367607
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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