A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508557



Internal ID15824584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:103813069..103846439hg38UCSC Ensembl
Outerchr9:106575350..106608720hg19UCSC Ensembl
Outerchr9:105615171..105648541hg18UCSC Ensembl
Outerchr9:103654905..103688275hg17UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3833371
hg1933371
hg1833371
hg1733371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618858
SamplesNA10860
Known Genes
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)nsv508557
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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