A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623476



Internal ID15475363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:43997855..44071222hg38UCSC Ensembl
Outerchr6:43965592..44038959hg19UCSC Ensembl
Outerchr6:44073570..44146937hg18UCSC Ensembl
Outerchr6:44073570..44146937hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg383314
hg193314
hg183314
hg173314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509131
Supporting Variants
SamplesNA18994
Known GenesC6orf223
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)nssv623476
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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