A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623456



Internal ID15475343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141155922..141192231hg38UCSC Ensembl
Outerchr5:140535503..140571804hg19UCSC Ensembl
Outerchr5:140515687..140551988hg18UCSC Ensembl
Outerchr5:140515687..140551988hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384426
hg194426
hg184426
hg174426
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509092
Supporting Variants
SamplesNA18994
Known GenesPCDHB16, PCDHB17, PCDHB7, PCDHB8, PCDHB9
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)nssv623456
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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