A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324892



Internal ID22173336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34035496..34035562hg38UCSC Ensembl
chr6:34003273..34003339hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208139
Supporting Variants
SamplesHG00514
Known GenesGRM4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324892
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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