A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509194



Internal ID15825220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:40688865..40716528hg38UCSC Ensembl
Outerchr7:40728464..40756127hg19UCSC Ensembl
Outerchr7:40694989..40722652hg18UCSC Ensembl
Outerchr7:40501704..40529367hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg384156
hg194156
hg184156
hg174156
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618064
SamplesCHM
Known GenesC7orf10
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)nsv509194
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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