A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622774



Internal ID15474661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:108152022..108210327hg38UCSC Ensembl
Outerchr1:108694644..108752949hg19UCSC Ensembl
Outerchr1:108496167..108554472hg18UCSC Ensembl
Outerchr1:108406686..108464991hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3858306
hg1958306
hg1858306
hg1758306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508459
Supporting Variants
SamplesNA18994
Known GenesSLC25A24
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)nssv622774
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer