A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619382



Internal ID15817963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70362764..70379748hg38UCSC Ensembl
Outerchr11:70208870..70225854hg19UCSC Ensembl
Outerchr11:69886518..69903502hg18UCSC Ensembl
Outerchr11:69886518..69903502hg17UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg385635
hg195635
hg185635
hg175635
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509426
Supporting Variants
SamplesNA10860
Known GenesPPFIA1
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)nssv619382
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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