A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623664



Internal ID15822237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:63776017..63827814hg38UCSC Ensembl
Outerchr14:64242735..64294532hg19UCSC Ensembl
Outerchr14:63312488..63364285hg18UCSC Ensembl
Outerchr14:63312488..63364285hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg384989
hg194989
hg184989
hg174989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509537
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)nssv623664
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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