A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509524



Internal ID15477022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:156238274..156308437hg38UCSC Ensembl
Outerchr1:156208065..156278228hg19UCSC Ensembl
Outerchr1:154474689..154544852hg18UCSC Ensembl
Outerchr1:153021138..153091301hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg387891
hg197891
hg187891
hg177891
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623801
SamplesNA18994
Known GenesBGLAP, C1orf85, PAQR6, PMF1, PMF1-BGLAP, SMG5, TMEM79, VHLL
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)nsv509524
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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