A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509319



Internal ID15476817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:114297186..114380605hg38UCSC Ensembl
Outerchr9:117059466..117142885hg19UCSC Ensembl
Outerchr9:116099287..116182706hg18UCSC Ensembl
Outerchr9:114139020..114222439hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg388107
hg198107
hg188107
hg178107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620927
SamplesNA15510
Known GenesAKNA, COL27A1, ORM1, ORM2
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)nsv509319
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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