A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510937



Internal ID15826959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:84605260..84623668hg38UCSC Ensembl
Outerchr6:85314978..85333386hg19UCSC Ensembl
Outerchr6:85371697..85390105hg18UCSC Ensembl
Outerchr6:85371697..85390105hg17UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3818409
hg1918409
hg1818409
hg1718409
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624309, nssv618690
SamplesCHM, NA18994
Known Genes
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)nsv510937
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex2
Frequencyn/a


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