A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619768



Internal ID15471663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10650567..10753153hg38UCSC Ensembl
Outerchr1:10710624..10813210hg19UCSC Ensembl
Outerchr1:10633211..10735797hg18UCSC Ensembl
Outerchr1:10644890..10747476hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg385694
hg195694
hg185694
hg175694
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508858
Supporting Variants
SamplesNA10860
Known GenesCASZ1
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)nssv619768
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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