A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620088



Internal ID15472757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:4832446..4882731hg38UCSC Ensembl
Outerchr16:4882447..4932732hg19UCSC Ensembl
Outerchr16:4822448..4872733hg18UCSC Ensembl
Outerchr16:4822448..4872733hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3850286
hg1950286
hg1850286
hg1750286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510674
Supporting Variants
SamplesNA15510
Known GenesGLYR1, PPL, UBN1
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv620088
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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