A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623374



Internal ID15821947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:71418442..71442873hg38UCSC Ensembl
Outerchr3:71467593..71492024hg19UCSC Ensembl
Outerchr3:71550283..71574714hg18UCSC Ensembl
Outerchr3:71550283..71574714hg17UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg383368
hg193368
hg183368
hg173368
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508932
Supporting Variants
SamplesNA18994
Known GenesFOXP1
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)nssv623374
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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