A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623453



Internal ID15822026
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
hg385996
hg195996
hg185996
hg175996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509426
Supporting Variants
SamplesNA18994
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)nssv623453
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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