A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508723



Internal ID15824750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:5777215..5971948hg38UCSC Ensembl
Outerchr1:5837275..6032008hg19UCSC Ensembl
Outerchr1:5759862..5954595hg18UCSC Ensembl
Outerchr1:5771541..5966274hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg384329
hg194329
hg184329
hg174329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619764, nssv619765, nssv623770
SamplesNA18994, NA10860
Known GenesMIR4689, NPHP4
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)nsv508723
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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