A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617496



Internal ID15816651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:109658149..109683296hg38UCSC Ensembl
Outerchr4:110579305..110604452hg19UCSC Ensembl
Outerchr4:110798754..110823901hg18UCSC Ensembl
Outerchr4:110936909..110962056hg17UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3825148
hg1925148
hg1825148
hg1725148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508303
Supporting Variants
SamplesCHM
Known GenesCCDC109B
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)nssv617496
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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