A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984



Internal ID15204162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:143305004..143350170hg38UCSC Ensembl
Outerchr7:143002097..143047263hg19UCSC Ensembl
Outerchr7:142712219..142757385hg18UCSC Ensembl
Outerchr7:142518934..142564100hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3845167
hg1945167
hg1845167
hg1745167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8442
SamplesNA12156
Known GenesCASP2, CLCN1
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)nsv5984
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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