A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620129



Internal ID15472798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:61625421..61674932hg38UCSC Ensembl
Outerchr1:62091093..62140604hg19UCSC Ensembl
Outerchr1:61863681..61913192hg18UCSC Ensembl
Outerchr1:61803114..61852625hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3849512
hg1949512
hg1849512
hg1749512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508226
Supporting Variants
SamplesNA15510
Known GenesMGC34796
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)nssv620129
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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