A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509453



Internal ID15476951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6896530..7007852hg38UCSC Ensembl
Outerchr12:7005694..7115157hg19UCSC Ensembl
Outerchr12:6875955..6985418hg18UCSC Ensembl
Outerchr12:6875955..6985418hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg388161
hg198161
hg188161
hg178161
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620935
SamplesNA15510
Known GenesATN1, C12orf57, EMG1, ENO2, LPCAT3, LRRC23, MIR141, MIR200C, PHB2, PTPN6, SCARNA12
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)nsv509453
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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