A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv634



Internal ID15204553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:20680285..20692394hg38UCSC Ensembl
Outerchr12:20833219..20845328hg19UCSC Ensembl
Outerchr12:20724486..20736595hg18UCSC Ensembl
Outerchr12:20724486..20736595hg17UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg387990
hg197990
hg187990
hg177990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1986
SamplesNA18555
Known GenesPDE3A
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)nsv634
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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