A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508944



Internal ID15476442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:101528526..101575525hg38UCSC Ensembl
Outerchr3:101247370..101294369hg19UCSC Ensembl
Outerchr3:102730060..102777059hg18UCSC Ensembl
Outerchr3:102730060..102777059hg17UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg384325
hg194325
hg184325
hg174325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623379
SamplesNA18994
Known GenesPCNP, TRMT10C
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)nsv508944
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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