A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617450



Internal ID15469919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248510229..248537834hg38UCSC Ensembl
Outerchr1:248673530..248701135hg19UCSC Ensembl
Outerchr1:246740153..246767758hg18UCSC Ensembl
Outerchr1:244999571..245027176hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3827606
hg1927606
hg1827606
hg1727606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508707
Supporting Variants
SamplesCHM
Known GenesOR2G6
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)nssv617450
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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