A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930



Internal ID15550789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:121047804..121079805hg38UCSC Ensembl
Outerchr7:120687858..120719859hg19UCSC Ensembl
Outerchr7:120475094..120507095hg18UCSC Ensembl
Outerchr7:120281809..120313810hg17UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg387746
hg197746
hg187746
hg177746
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3576
SamplesNA12878
Known GenesCPED1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv5930
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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