A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509537



Internal ID15825563
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
hg385889
hg195889
hg185889
hg175889
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623664, nssv621003, nssv619649
SamplesNA15510, NA18994, NA10860
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)nsv509537
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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