A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213



Internal ID15547800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233104901..233116104hg38UCSC Ensembl
Outerchr2:233969611..233980814hg19UCSC Ensembl
Outerchr2:233677855..233689058hg18UCSC Ensembl
Outerchr2:233795116..233806319hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg385873
hg195873
hg185873
hg175873
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7631
SamplesNA12156
Known GenesINPP5D
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)nsv3213
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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