A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508622



Internal ID15824649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:34329012..34341637hg38UCSC Ensembl
Outerchr11:34350559..34363184hg19UCSC Ensembl
Outerchr11:34307135..34319760hg18UCSC Ensembl
Outerchr11:34307135..34319760hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3812626
hg1912626
hg1812626
hg1712626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622442
SamplesNA18994
Known GenesABTB2
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)nsv508622
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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