A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620844



Internal ID15473510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:12285231..12386513hg38UCSC Ensembl
Outerchr6:12285464..12386745hg19UCSC Ensembl
Outerchr6:12393450..12494731hg18UCSC Ensembl
Outerchr6:12393450..12494731hg17UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg384020
hg194020
hg184020
hg174020
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509117
Supporting Variants
SamplesNA15510
Known GenesEDN1
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)nssv620844
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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