A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617519



Internal ID15816674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:56870883..56908487hg38UCSC Ensembl
Outerchr6:56735681..56773285hg19UCSC Ensembl
Outerchr6:56843640..56881244hg18UCSC Ensembl
Outerchr6:56843640..56881244hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3837605
hg1937605
hg1837605
hg1737605
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508408
Supporting Variants
SamplesCHM
Known GenesDST
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)nssv617519
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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