A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619325



Internal ID15471220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48696212..48784507hg38UCSC Ensembl
Outerchr3:48733645..48821940hg19UCSC Ensembl
Outerchr3:48708649..48796944hg18UCSC Ensembl
Outerchr3:48708649..48796944hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384272
hg194272
hg184272
hg174272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508918
Supporting Variants
SamplesNA10860
Known GenesIP6K2, PRKAR2A
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)nssv619325
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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