A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508701



Internal ID15824728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:235792245..235825568hg38UCSC Ensembl
Outerchr1:235955545..235988868hg19UCSC Ensembl
Outerchr1:234022168..234055491hg18UCSC Ensembl
Outerchr1:232281586..232314909hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3833324
hg1933324
hg1833324
hg1733324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622790
SamplesNA18994
Known GenesLYST
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)nsv508701
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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