A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1275



Internal ID15545838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:51290961..51324861hg38UCSC Ensembl
Outerchr14:51757679..51791579hg19UCSC Ensembl
Outerchr14:50827429..50861329hg18UCSC Ensembl
Outerchr14:50827429..50861329hg17UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg387088
hg197088
hg187088
hg177088
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1191
SamplesNA19240
Known Genes
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)nsv1275
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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