A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1295



Internal ID8512840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:60649120..60693976hg38UCSC Ensembl
Outerchr14:61115838..61160694hg19UCSC Ensembl
Outerchr14:60185591..60230447hg18UCSC Ensembl
Outerchr14:60185591..60230447hg17UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3844857
hg1944857
hg1844857
hg1744857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9202
SamplesNA12156
Known GenesSIX1
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)nsv1295
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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