A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618652



Internal ID15816458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:82240610..82274618hg38UCSC Ensembl
Outerchr6:82950327..82984335hg19UCSC Ensembl
Outerchr6:83007046..83041054hg18UCSC Ensembl
Outerchr6:83007046..83041054hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3834009
hg1934009
hg1834009
hg1734009
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510926
Supporting Variants
SamplesCHM
Known GenesIBTK
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)nssv618652
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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