A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618919



Internal ID15472037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:66748259..66759884hg38UCSC Ensembl
Outerchr14:67214977..67226602hg19UCSC Ensembl
Outerchr14:66284730..66296355hg18UCSC Ensembl
Outerchr14:66284730..66296355hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3811626
hg1911626
hg1811626
hg1711626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510641
Supporting Variants
SamplesNA10860
Known GenesGPHN
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)nssv618919
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