A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378318



Internal ID22436188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62483209..62483209hg38UCSC Ensembl
chr1:62948880..62948880hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5962145
Supporting Variants
Samples
Known GenesDOCK7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378318
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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