A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623401



Internal ID15821974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195425299..195514144hg38UCSC Ensembl
Outerchr3:195146028..195240940hg19UCSC Ensembl
Outerchr3:196627317..196722229hg18UCSC Ensembl
Outerchr3:196627325..196722237hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3832873
hg1932873
hg1832873
hg1732873
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508977
Supporting Variants
SamplesNA18994
Known GenesACAP2, MIR5692C1
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)nssv623401
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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