A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509580



Internal ID15825606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:85210990..85295599hg38UCSC Ensembl
Outerchr15:85754221..85838830hg19UCSC Ensembl
Outerchr15:83555225..83639834hg18UCSC Ensembl
Outerchr15:83555225..83639834hg17UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg383203
hg193203
hg183203
hg173203
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621013, nssv619673, nssv623679
SamplesNA15510, NA18994, NA10860
Known GenesLOC440300
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)nsv509580
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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