A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619303



Internal ID15817884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231801424..231866373hg38UCSC Ensembl
Outerchr2:232666134..232731083hg19UCSC Ensembl
Outerchr2:232374378..232439327hg18UCSC Ensembl
Outerchr2:232491639..232556588hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg384135
hg194135
hg184135
hg174135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508890
Supporting Variants
SamplesNA10860
Known GenesCOPS7B
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)nssv619303
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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