A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508624



Internal ID15480300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:35495881..35575121hg38UCSC Ensembl
Outerchr11:35517429..35596669hg19UCSC Ensembl
Outerchr11:35474005..35553245hg18UCSC Ensembl
Outerchr11:35474005..35553245hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3879241
hg1979241
hg1879241
hg1779241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620204
SamplesNA15510
Known GenesPAMR1
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)nsv508624
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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