A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510088



Internal ID15826114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:70265326..70271326hg38UCSC Ensembl
Outerchr7:69730312..69736312hg19UCSC Ensembl
Outerchr7:69368248..69374248hg18UCSC Ensembl
Outerchr7:69174963..69180963hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618263
SamplesCHM
Known GenesAUTS2
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)nsv510088
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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