A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509602



Internal ID15477100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:205478839..205564525hg38UCSC Ensembl
Outerchr1:205447967..205533653hg19UCSC Ensembl
Outerchr1:203714590..203800276hg18UCSC Ensembl
Outerchr1:202179624..202265310hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383491
hg193491
hg183491
hg173491
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619821
SamplesNA10860
Known GenesCDK18, LOC284578
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)nsv509602
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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