A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508711



Internal ID15480387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31085407..31192548hg38UCSC Ensembl
Outerchr1:31558254..31665395hg19UCSC Ensembl
Outerchr1:31330841..31437982hg18UCSC Ensembl
Outerchr1:31227347..31334488hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38107142
hg19107142
hg18107142
hg17107142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618969
SamplesNA10860
Known GenesNKAIN1
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)nsv508711
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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