A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5996



Internal ID15204175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:147208607..147253593hg38UCSC Ensembl
Outerchr7:146905699..146950685hg19UCSC Ensembl
Outerchr7:146536632..146581618hg18UCSC Ensembl
Outerchr7:146343347..146388333hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3844987
hg1944987
hg1844987
hg1744987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8444
SamplesNA12156
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)nsv5996
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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