A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290736



Internal ID22307276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73649974..73712977hg38UCSC Ensembl
chr2:73877101..73940104hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3863004
hg1963004
Variant TypeOTHER sequence alteration
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230394
Supporting Variants
SamplesNA19240
Known GenesALMS1P, NAT8B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14290736
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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