A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510972



Internal ID15826994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158123223..158213876hg38UCSC Ensembl
Outerchr7:157915915..158006568hg19UCSC Ensembl
Outerchr7:157608676..157699329hg18UCSC Ensembl
Outerchr7:157415391..157506044hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3890654
hg1990654
hg1890654
hg1790654
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618659
SamplesCHM
Known GenesPTPRN2
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)nsv510972
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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