A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623412



Internal ID15821985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:48250104..48295161hg38UCSC Ensembl
Outerchr4:48252121..48297178hg19UCSC Ensembl
Outerchr4:47946878..47991935hg18UCSC Ensembl
Outerchr4:48093049..48138106hg17UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg383514
hg193514
hg183514
hg173514
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509003
Supporting Variants
SamplesNA18994
Known GenesTEC
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)nssv623412
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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