A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510111



Internal ID15826137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:118170427..118176427hg38UCSC Ensembl
Outerchr7:117810481..117816481hg19UCSC Ensembl
Outerchr7:117597717..117603717hg18UCSC Ensembl
Outerchr7:117404432..117410432hg17UCSC Ensembl
Cytoband7q31.31
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 Variantsnssv624047
SamplesNA18994
Known Genes
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)nsv510111
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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