A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508359



Internal ID15480035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:21578381..21654198hg38UCSC Ensembl
Outerchr1:21904874..21980691hg19UCSC Ensembl
Outerchr1:21777461..21853278hg18UCSC Ensembl
Outerchr1:21650180..21725997hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3875818
hg1975818
hg1875818
hg1775818
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622758
SamplesNA18994
Known GenesALPL, RAP1GAP
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)nsv508359
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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