A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1238



Internal ID15199115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:34748141..34811859hg38UCSC Ensembl
Outerchr14:35217347..35281065hg19UCSC Ensembl
Outerchr14:34287098..34350816hg18UCSC Ensembl
Outerchr14:34287098..34350816hg17UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg385014
hg195014
hg185014
hg175014
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2917, nssv4106
SamplesNA12878, NA18555
Known GenesBAZ1A
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)nsv1238
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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