A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507368



Internal ID15479047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:151981599..151987599hg38UCSC Ensembl
Outerchr6:152302734..152308734hg19UCSC Ensembl
Outerchr6:152344427..152350427hg18UCSC Ensembl
Outerchr6:152394848..152400848hg17UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620361, nssv621864, nssv617726
SamplesCHM, NA15510, NA10860
Known GenesESR1
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)nsv507368
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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