A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508977



Internal ID15825003
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
hg389623
hg199623
hg189623
hg179623
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620779, nssv623401
SamplesNA15510, NA18994
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)nsv508977
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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