A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17507140



Internal ID22565088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:49772040..49775583hg38UCSC Ensembl
chr7:49811636..49815179hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg383544
hg193544
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5846642
Supporting Variants
Samples
Known GenesVWC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17507140
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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