A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17507107



Internal ID22565055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48068390..48116548hg38UCSC Ensembl
chr7:48107987..48156145hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3848159
hg1948159
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5847300
Supporting Variants
Samples
Known GenesUPP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17507107
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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