A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621104



Internal ID15473768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152671968..152751679hg38UCSC Ensembl
Outerchr1:152644444..152724155hg19UCSC Ensembl
Outerchr1:150911068..150990779hg18UCSC Ensembl
Outerchr1:149457517..149537228hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg383443
hg193443
hg183443
hg173443
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509480
Supporting Variants
SamplesNA15510
Known GenesC1orf68, LCE2A, LCE2B, LCE2C, LCE4A
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)nssv621104
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