A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508901



Internal ID15476399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241617369..241723799hg38UCSC Ensembl
Outerchr2:242556784..242663214hg19UCSC Ensembl
Outerchr2:242205457..242311887hg18UCSC Ensembl
Outerchr2:242276774..242383204hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385159
hg195159
hg185159
hg175159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619311
SamplesNA10860
Known GenesATG4B, DTYMK, ING5, THAP4
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)nsv508901
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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