A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508694



Internal ID15824721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:216727672..216750541hg38UCSC Ensembl
Outerchr1:216901014..216923883hg19UCSC Ensembl
Outerchr1:214967637..214990506hg18UCSC Ensembl
Outerchr1:213289409..213312278hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3822870
hg1922870
hg1822870
hg1722870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620150
SamplesNA15510
Known GenesESRRG
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)nsv508694
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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