A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509183



Internal ID15476681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1040565..1097490hg38UCSC Ensembl
Outerchr7:1080201..1137126hg19UCSC Ensembl
Outerchr7:1046727..1103652hg18UCSC Ensembl
Outerchr7:853442..910367hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg383684
hg193684
hg183684
hg173684
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619473
SamplesNA10860
Known GenesC7orf50, GPER1, GPR146
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)nsv509183
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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