A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509323



Internal ID15476821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128991062..129129399hg38UCSC Ensembl
Outerchr9:131753341..131891678hg19UCSC Ensembl
Outerchr9:130793162..130931499hg18UCSC Ensembl
Outerchr9:128832895..128971232hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg383508
hg193508
hg183508
hg173508
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623566, nssv623565
SamplesNA18994
Known GenesCRAT, DOLPP1, FAM73B, NUP188, PPP2R4, SH3GLB2
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)nsv509323
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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