A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617482



Internal ID15469951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:132251834..132328778hg38UCSC Ensembl
Outerchr3:131970678..132047622hg19UCSC Ensembl
Outerchr3:133453368..133530312hg18UCSC Ensembl
Outerchr3:133453376..133530320hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3876945
hg1976945
hg1876945
hg1776945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508245
Supporting Variants
SamplesCHM
Known GenesACPP
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)nssv617482
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