A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623770



Internal ID15822343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:5777215..5866807hg38UCSC Ensembl
Outerchr1:5837275..5926867hg19UCSC Ensembl
Outerchr1:5759862..5849454hg18UCSC Ensembl
Outerchr1:5771541..5861133hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg383673
hg193673
hg183673
hg173673
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508723
Supporting Variants
SamplesNA18994
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)nssv623770
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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