A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3064



Internal ID15200950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:182157926..182191202hg38UCSC Ensembl
Outerchr2:183022653..183055929hg19UCSC Ensembl
Outerchr2:182730898..182764174hg18UCSC Ensembl
Outerchr2:182848159..182881435hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg386753
hg196753
hg186753
hg176753
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2309
SamplesNA18555
Known GenesPDE1A
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)nsv3064
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer