A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621091



Internal ID15473755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31420571..31472224hg38UCSC Ensembl
Outerchr1:31893418..31945071hg19UCSC Ensembl
Outerchr1:31666005..31717658hg18UCSC Ensembl
Outerchr1:31562511..31614164hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg385046
hg195046
hg185046
hg175046
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509135
Supporting Variants
SamplesNA15510
Known GenesSERINC2
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)nssv621091
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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