A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510697



Internal ID15478193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9729641..9812090hg38UCSC Ensembl
Outerchr17:9632958..9715407hg19UCSC Ensembl
Outerchr17:9573683..9656132hg18UCSC Ensembl
Outerchr17:9573683..9656132hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3882450
hg1982450
hg1882450
hg1782450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617427
SamplesCHM
Known GenesDHRS7C, USP43
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)nsv510697
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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