A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17503553



Internal ID22561494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:8553188..8557616hg38UCSC Ensembl
chr7:8592818..8597246hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg384429
hg194429
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5847474
Supporting Variants
Samples
Known GenesNXPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17503553
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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