A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17508875



Internal ID22566825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66957891..66965209hg38UCSC Ensembl
chr7:66422878..66430196hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg387319
hg197319
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5866740
Supporting Variants
Samples
Known GenesTMEM248
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17508875
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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