A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682



Internal ID15550516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:29880462..29912196hg38UCSC Ensembl
Outerchr7:29920078..29951812hg19UCSC Ensembl
Outerchr7:29886603..29918337hg18UCSC Ensembl
Outerchr7:29693318..29725052hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg389243
hg199243
hg189243
hg179243
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619
SamplesNA19240
Known GenesWIPF3
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)nsv5682
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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