A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5994



Internal ID15204173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:146434885..146454192hg38UCSC Ensembl
Outerchr7:146131977..146151284hg19UCSC Ensembl
Outerchr7:145762910..145782217hg18UCSC Ensembl
Outerchr7:145569625..145588932hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3819308
hg1919308
hg1819308
hg1719308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9912
SamplesNA18507
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)nsv5994
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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