A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623449



Internal ID15475336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:95201395..95216953hg38UCSC Ensembl
Outerchr5:94537099..94552657hg19UCSC Ensembl
Outerchr5:94562855..94578413hg18UCSC Ensembl
Outerchr5:94562855..94578413hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3814425
hg1914425
hg1814425
hg1714425
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509076
Supporting Variants
SamplesNA18994
Known GenesMCTP1
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)nssv623449
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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