A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623572



Internal ID15475459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137698788..137735321hg38UCSC Ensembl
Outerchr9:140593240..140629773hg19UCSC Ensembl
Outerchr9:139713061..139749594hg18UCSC Ensembl
Outerchr9:137869077..137905610hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg384496
hg194496
hg184496
hg174496
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509336
Supporting Variants
SamplesNA18994
Known GenesEHMT1
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)nssv623572
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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