A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508264



Internal ID15479940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:187169641..187226709hg38UCSC Ensembl
Outerchr3:186887429..186944497hg19UCSC Ensembl
Outerchr3:188370123..188427191hg18UCSC Ensembl
Outerchr3:188370131..188427199hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3857069
hg1957069
hg1857069
hg1757069
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619929
SamplesNA15510
Known GenesMASP1, RTP1
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)nsv508264
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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