A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508929



Internal ID15824955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:55734440..55734440hg38UCSC Ensembl
Outerchr3:55768468..55768468hg19UCSC Ensembl
Outerchr3:55743508..55743508hg18UCSC Ensembl
Outerchr3:55743508..55743508hg17UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg386805
hg196805
hg186805
hg176805
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618015
SamplesCHM
Known GenesERC2
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)nsv508929
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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