A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619787



Internal ID15471682
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
hg385765
hg195765
hg185765
hg175765
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509135
Supporting Variants
SamplesNA10860
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)nssv619787
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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