A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281689



Internal ID22220121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73219883..73221546hg38UCSC Ensembl
chr17:71216022..71217685hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381664
hg191664
Variant TypeOTHER sequence alteration
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557524
Supporting Variants
SamplesHG00733
Known GenesFAM104A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281689
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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