A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619791



Internal ID15471686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:36433286..36490168hg38UCSC Ensembl
Outerchr1:36898887..36955769hg19UCSC Ensembl
Outerchr1:36671474..36728356hg18UCSC Ensembl
Outerchr1:36567980..36624862hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg383032
hg193032
hg183032
hg173032
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509202
Supporting Variants
SamplesNA10860
Known GenesCSF3R, MRPS15, OSCP1
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)nssv619791
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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