A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509223



Internal ID15476721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148247282..148341381hg38UCSC Ensembl
Outerchr7:147944374..148038473hg19UCSC Ensembl
Outerchr7:147575307..147669406hg18UCSC Ensembl
Outerchr7:147382022..147476121hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383807
hg193807
hg183807
hg173807
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623519
SamplesNA18994
Known GenesCNTNAP2, MIR548T
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)nsv509223
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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