A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17509557



Internal ID22567507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:114994089..114999161hg38UCSC Ensembl
chr7:114634143..114639215hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg385073
hg195073
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5864205
Supporting Variants
Samples
Known GenesMDFIC
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17509557
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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