A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510950



Internal ID15826972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:782539..811962hg38UCSC Ensembl
Outerchr1:717919..747342hg19UCSC Ensembl
Outerchr1:707782..737205hg18UCSC Ensembl
Outerchr1:757782..787205hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3829424
hg1929424
hg1829424
hg1729424
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624357, nssv621648
SamplesNA15510, NA18994
Known Genes
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)nsv510950
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex2
Frequencyn/a


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