A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14372553



Internal ID22207100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68176302..68176370hg38UCSC Ensembl
chr1:68641985..68642053hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198307
Supporting Variants
SamplesHG00732
Known GenesGNG12-AS1, WLS
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14372553
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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