A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622778



Internal ID15474665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:158192142..158272368hg38UCSC Ensembl
Outerchr1:158161932..158242158hg19UCSC Ensembl
Outerchr1:156428556..156508782hg18UCSC Ensembl
Outerchr1:154975005..155055231hg17UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3880227
hg1980227
hg1880227
hg1780227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508626
Supporting Variants
SamplesNA18994
Known GenesCD1A
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)nssv622778
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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