A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1361



Internal ID8512906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:77241074..77286681hg38UCSC Ensembl
Outerchr14:77707417..77753024hg19UCSC Ensembl
Outerchr14:76777170..76822777hg18UCSC Ensembl
Outerchr14:76777170..76822777hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3845608
hg1945608
hg1845608
hg1745608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6603
SamplesNA12156
Known GenesMIR1260A, NGB, POMT2, TMEM63C
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)nsv1361
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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