A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619328



Internal ID15471223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52769883..52888575hg38UCSC Ensembl
Outerchr3:52803899..52922591hg19UCSC Ensembl
Outerchr3:52778939..52897631hg18UCSC Ensembl
Outerchr3:52778939..52897631hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg384703
hg194703
hg184703
hg174703
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508928
Supporting Variants
SamplesNA10860
Known GenesITIH1, ITIH3, ITIH4, MIR8064, MUSTN1, NEK4, TMEM110, TMEM110-MUSTN1
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)nssv619328
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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