A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623231



Internal ID15821804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63543858..63549858hg38UCSC Ensembl
Outerchr17:61621219..61627219hg19UCSC Ensembl
Outerchr17:58974951..58980951hg18UCSC Ensembl
Outerchr17:58974951..58980951hg17UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv507852
Supporting Variants
SamplesNA18994
Known GenesKCNH6
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)nssv623231
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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