A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620143



Internal ID15472812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:178224307..178255720hg38UCSC Ensembl
Outerchr1:178193442..178224855hg19UCSC Ensembl
Outerchr1:176460065..176491478hg18UCSC Ensembl
Outerchr1:174925099..174956512hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3831414
hg1931414
hg1831414
hg1731414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508670
Supporting Variants
SamplesNA15510
Known GenesRASAL2
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)nssv620143
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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