A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622375



Internal ID15817600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:60596683..61119912hg38UCSC Ensembl
Outerchr6:57564430..58137718hg19UCSC Ensembl
Outerchr6:57672389..58245677hg18UCSC Ensembl
Outerchr6:57672389..58245677hg17UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg38523230
hg19573289
hg18573289
hg17573289
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510918
Supporting Variants
SamplesNA10860
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)nssv622375
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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