A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623230



Internal ID15821803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:62338803..62345856hg38UCSC Ensembl
Outerchr17:60416164..60423217hg19UCSC Ensembl
Outerchr17:57770946..57776946hg18UCSC Ensembl
Outerchr17:57770946..57776946hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg387054
hg197054
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv507851
Supporting Variants
SamplesNA18994
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)nssv623230
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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