A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508171



Internal ID15479847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:41339211..41509009hg38UCSC Ensembl
Outerchr1:41804883..41974680hg19UCSC Ensembl
Outerchr1:41577470..41747267hg18UCSC Ensembl
Outerchr1:41473976..41643773hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38169799
hg19169798
hg18169798
hg17169798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622762
SamplesNA18994
Known GenesEDN2, HIVEP3
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)nsv508171
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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