A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371750



Internal ID22597419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:60065002..60065002hg38UCSC Ensembl
chr1:60530674..60530674hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5949063
Supporting Variants
Samples
Known GenesC1orf87
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371750
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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