A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623826



Internal ID15475713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:11214235..11286237hg38UCSC Ensembl
Outerchr11:11235782..11307784hg19UCSC Ensembl
Outerchr11:11192358..11264360hg18UCSC Ensembl
Outerchr11:11192358..11264360hg17UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg387223
hg197223
hg187223
hg177223
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509389
Supporting Variants
SamplesNA18994
Known GenesGALNT18
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)nssv623826
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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