A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17487642



Internal ID22545558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68301647..68303780hg38UCSC Ensembl
chr2:68528779..68530912hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg382134
hg192134
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5833696
Supporting Variants
Samples
Known GenesCNRIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17487642
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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