A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623663



Internal ID15822236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:52172703..52207960hg38UCSC Ensembl
Outerchr14:52639421..52674678hg19UCSC Ensembl
Outerchr14:51709171..51744428hg18UCSC Ensembl
Outerchr14:51709171..51744428hg17UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg387946
hg197946
hg187946
hg177946
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509534
Supporting Variants
SamplesNA18994
Known Genes
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)nssv623663
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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