A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5917



Internal ID8517756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:117632604..117664921hg38UCSC Ensembl
Outerchr7:117272658..117304975hg19UCSC Ensembl
Outerchr7:117059894..117092211hg18UCSC Ensembl
Outerchr7:116866609..116898926hg17UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg387182
hg197182
hg187182
hg177182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10577
SamplesNA18956
Known GenesCFTR
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)nsv5917
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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