A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509216



Internal ID15825242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99163800..99231644hg38UCSC Ensembl
Outerchr7:98761423..98829267hg19UCSC Ensembl
Outerchr7:98599359..98667203hg18UCSC Ensembl
Outerchr7:98406074..98473918hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385675
hg195675
hg185675
hg175675
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623516, nssv620886, nssv619495
SamplesNA15510, NA18994, NA10860
Known GenesKPNA7
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)nsv509216
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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