A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509269



Internal ID15476767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:53296636..53583096hg38UCSC Ensembl
Outerchr1:53762308..54048769hg19UCSC Ensembl
Outerchr1:53534896..53821357hg18UCSC Ensembl
Outerchr1:53474329..53760790hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384760
hg194760
hg184760
hg174760
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619799, nssv619800, nssv619797, nssv619798
SamplesNA10860
Known GenesDMRTB1, GLIS1, LRP8, SLC25A3P1
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)nsv509269
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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