A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508924



Internal ID15824950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:854379..884949hg38UCSC Ensembl
Outerchr1:789759..820329hg19UCSC Ensembl
Outerchr1:779622..810192hg18UCSC Ensembl
Outerchr1:829622..860192hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg384306
hg194306
hg184306
hg174306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619757
SamplesNA10860
Known GenesFAM41C, LINC01128
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)nsv508924
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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