A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508210



Internal ID15824237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:14604628..14718068hg38UCSC Ensembl
Outerchr3:14646135..14759575hg19UCSC Ensembl
Outerchr3:14621139..14734579hg18UCSC Ensembl
Outerchr3:14621139..14734579hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38113441
hg19113441
hg18113441
hg17113441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620203
SamplesNA15510
Known GenesC3orf20, CCDC174
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)nsv508210
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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