A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509522



Internal ID15825548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113408681..113432073hg38UCSC Ensembl
Outerchr13:114062996..114086388hg19UCSC Ensembl
Outerchr13:113110997..113134389hg18UCSC Ensembl
Outerchr13:113110997..113134389hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg383742
hg193742
hg183742
hg173742
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620995, nssv619644, nssv623656
SamplesNA15510, NA18994, NA10860
Known GenesADPRHL1
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)nsv509522
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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