A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508880



Internal ID15476378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:11721383..11771263hg38UCSC Ensembl
Outerchr1:11781440..11831320hg19UCSC Ensembl
Outerchr1:11704027..11753907hg18UCSC Ensembl
Outerchr1:11715706..11765586hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg383292
hg193292
hg183292
hg173292
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619769
SamplesNA10860
Known GenesAGTRAP
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)nsv508880
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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