A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3666



Internal ID15548298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:176607559..176651874hg38UCSC Ensembl
Outerchr1:176576695..176621010hg19UCSC Ensembl
Outerchr1:174843318..174887633hg18UCSC Ensembl
Outerchr1:173308352..173352667hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3844316
hg1944316
hg1844316
hg1744316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9379, nssv2609
SamplesNA18555, NA18517
Known GenesPAPPA2
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)nsv3666
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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