A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5995



Internal ID15204174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:146731839..146753546hg38UCSC Ensembl
Outerchr7:146428931..146450638hg19UCSC Ensembl
Outerchr7:146059864..146081571hg18UCSC Ensembl
Outerchr7:145866579..145888286hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3810246
hg1910246
hg1810246
hg1710246
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3592
SamplesNA12878
Known GenesCNTNAP2
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)nsv5995
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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