A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509115



Internal ID15476613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:360763..416001hg38UCSC Ensembl
Outerchr6:360763..416001hg19UCSC Ensembl
Outerchr6:305763..361001hg18UCSC Ensembl
Outerchr6:305763..361001hg17UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg384057
hg194057
hg184057
hg174057
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620843, nssv623467, nssv619442
SamplesNA18994, NA15510, NA10860
Known GenesIRF4
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)nsv509115
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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