A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619475



Internal ID15471370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:15171456..15289792hg38UCSC Ensembl
Outerchr10:15213455..15331791hg19UCSC Ensembl
Outerchr10:15253461..15371797hg18UCSC Ensembl
Outerchr10:15253461..15371797hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg384021
hg194021
hg184021
hg174021
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509344
Supporting Variants
SamplesNA10860
Known GenesFAM171A1
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)nssv619475
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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