A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17487561



Internal ID22545477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62130570..62148727hg38UCSC Ensembl
chr2:62357705..62375862hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3818158
hg1918158
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5833997
Supporting Variants
Samples
Known GenesCOMMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17487561
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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