A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619773



Internal ID15471668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:15717096..15803573hg38UCSC Ensembl
Outerchr1:16043591..16130068hg19UCSC Ensembl
Outerchr1:15916178..16002655hg18UCSC Ensembl
Outerchr1:15788897..15875374hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg383034
hg193034
hg183034
hg173034
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508925
Supporting Variants
SamplesNA10860
Known GenesFBLIM1, PLEKHM2, SLC25A34, TMEM82
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)nssv619773
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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