A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509077



Internal ID15825103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:97523208..97546653hg38UCSC Ensembl
Outerchr5:96858912..96882357hg19UCSC Ensembl
Outerchr5:96884668..96908113hg18UCSC Ensembl
Outerchr5:96884668..96908113hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg383073
hg193073
hg183073
hg173073
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623450, nssv618042
SamplesCHM, NA18994
Known GenesLOC102546227
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)nsv509077
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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