A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617575



Internal ID15816730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177469309..177475309hg38UCSC Ensembl
Outerchr2:178334037..178340037hg19UCSC Ensembl
Outerchr2:178042283..178048283hg18UCSC Ensembl
Outerchr2:178159544..178165544hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv507053
Supporting Variants
SamplesCHM
Known GenesAGPS
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)nssv617575
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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