A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509158



Internal ID15476656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:32691713..32783820hg38UCSC Ensembl
Outerchr1:33157314..33249421hg19UCSC Ensembl
Outerchr1:32929901..33022008hg18UCSC Ensembl
Outerchr1:32826407..32918514hg17UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg383024
hg193024
hg183024
hg173024
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619789
SamplesNA10860
Known GenesKIAA1522, SYNC, YARS
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)nsv509158
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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