A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14334643



Internal ID22195087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:32531415..32531415hg38UCSC Ensembl
chr7:32571027..32571027hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3530294
Supporting Variants
SamplesHG00731
Known GenesAVL9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14334643
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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