A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1276



Internal ID15199153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:67683953..67697985hg38UCSC Ensembl
Outerchr1:68149636..68163668hg19UCSC Ensembl
Outerchr1:67922224..67936256hg18UCSC Ensembl
Outerchr1:67861657..67875689hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3814033
hg1914033
hg1814033
hg1714033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7165
SamplesNA12156
Known GenesGADD45A
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)nsv1276
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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