A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509215



Internal ID15825241
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 StatusM
Merged Variants
Supporting Variantsnssv619494, nssv623515, nssv620885
SamplesNA15510, NA18994, NA10860
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)nsv509215
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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