A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619784



Internal ID15818365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:29700059..29764880hg38UCSC Ensembl
Outerchr1:30172906..30237727hg19UCSC Ensembl
Outerchr1:29945493..30010314hg18UCSC Ensembl
Outerchr1:29841999..29906820hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg383168
hg193168
hg183168
hg173168
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509102
Supporting Variants
SamplesNA10860
Known Genes
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)nssv619784
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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