A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218



Internal ID15547805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234296915..234330103hg38UCSC Ensembl
Outerchr2:235205559..235238747hg19UCSC Ensembl
Outerchr2:234870298..234903486hg18UCSC Ensembl
Outerchr2:234987559..235020747hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg386248
hg196248
hg186248
hg176248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7633
SamplesNA12156
Known Genes
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)nsv3218
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