A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv300



Internal ID15200879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:32206912..32241689hg38UCSC Ensembl
Outerchr1:32672513..32707290hg19UCSC Ensembl
Outerchr1:32445100..32479877hg18UCSC Ensembl
Outerchr1:32341606..32376383hg17UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg386224
hg196224
hg186224
hg176224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1059
SamplesNA19240
Known GenesDCDC2B, EIF3I, IQCC, MTMR9LP, TMEM234
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)nsv300
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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