A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619494



Internal ID15818075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:98713717..98832230hg38UCSC Ensembl
Outerchr7:98343029..98429853hg19UCSC Ensembl
Outerchr7:98180965..98267789hg18UCSC Ensembl
Outerchr7:97987680..98074504hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3835364
hg1935364
hg1835364
hg1735364
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509215
Supporting Variants
SamplesNA10860
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)nssv619494
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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