A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621118



Internal ID15473782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247099178..247137315hg38UCSC Ensembl
Outerchr1:247262480..247300617hg19UCSC Ensembl
Outerchr1:245329103..245367240hg18UCSC Ensembl
Outerchr1:243588521..243626658hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg384136
hg194136
hg184136
hg174136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509779
Supporting Variants
SamplesNA15510
Known GenesC1orf229, ZNF124, ZNF669
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)nssv621118
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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