A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17507122



Internal ID22565070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48642222..48647871hg38UCSC Ensembl
chr7:48681818..48687467hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg385650
hg195650
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5846891
Supporting Variants
Samples
Known GenesABCA13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17507122
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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