A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4106



Internal ID15192147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:34748141..34780169hg38UCSC Ensembl
Outerchr14:35217347..35249375hg19UCSC Ensembl
Outerchr14:34287098..34319126hg18UCSC Ensembl
Outerchr14:34287098..34319126hg17UCSC 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 StatusS
Merged Variantsnsv1238
Supporting Variants
SamplesNA12878
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)nssv4106
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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