A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509706



Internal ID15477204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79315089..79446158hg38UCSC Ensembl
Outerchr18:77075089..77206158hg19UCSC Ensembl
Outerchr18:75176077..75307146hg18UCSC Ensembl
Outerchr18:75176077..75307146hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg384148
hg194148
hg184148
hg174148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621054, nssv621055
SamplesNA15510
Known GenesATP9B, NFATC1
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)nsv509706
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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