A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14432004



Internal ID22174801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41123869..41123989hg38UCSC Ensembl
chr17:39280121..39280241hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3283780
Supporting Variants
SamplesHG00514
Known GenesKRTAP4-12
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14432004
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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