A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481618



Internal ID22539522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71303407..71344690hg38UCSC Ensembl
chr2:71530537..71571820hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3841284
hg1941284
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5834016
Supporting Variants
Samples
Known GenesZNF638
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481618
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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