A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623799



Internal ID15475686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155932322..156052794hg38UCSC Ensembl
Outerchr1:155902113..156022585hg19UCSC Ensembl
Outerchr1:154168737..154289209hg18UCSC Ensembl
Outerchr1:152715186..152835658hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg385031
hg195031
hg185031
hg175031
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509513
Supporting Variants
SamplesNA18994
Known GenesARHGEF2, KIAA0907, MIR6738, MIR7851, RXFP4, SSR2, UBQLN4
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)nssv623799
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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