A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508243



Internal ID15824270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130610296..130648923hg38UCSC Ensembl
Outerchr3:130329140..130367767hg19UCSC Ensembl
Outerchr3:131811830..131850457hg18UCSC Ensembl
Outerchr3:131811838..131850465hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3838628
hg1938628
hg1838628
hg1738628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617480
SamplesCHM
Known GenesCOL6A6
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)nsv508243
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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