A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619657



Internal ID15471552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:95826747..95910053hg38UCSC Ensembl
Outerchr14:96293084..96376390hg19UCSC Ensembl
Outerchr14:95362837..95446143hg18UCSC Ensembl
Outerchr14:95362837..95446143hg17UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg383280
hg193280
hg183280
hg173280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509547
Supporting Variants
SamplesNA10860
Known GenesLINC00617
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)nssv619657
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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