A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17487573



Internal ID22545489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63039006..63043832hg38UCSC Ensembl
chr2:63266141..63270967hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg384827
hg194827
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5833444
Supporting Variants
Samples
Known GenesEHBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17487573
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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