A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619340



Internal ID15817921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129545350..129647876hg38UCSC Ensembl
Outerchr3:129264193..129366719hg19UCSC Ensembl
Outerchr3:130746883..130849409hg18UCSC Ensembl
Outerchr3:130746891..130849417hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg385950
hg195950
hg185950
hg175950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508953
Supporting Variants
SamplesNA10860
Known GenesH1FOO, PLXND1, TMCC1
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)nssv619340
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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