A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6600



Internal ID15537263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73515329..73530415hg38UCSC Ensembl
Outerchr14:73982033..73997119hg19UCSC Ensembl
Outerchr14:73051786..73066872hg18UCSC Ensembl
Outerchr14:73051786..73066872hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3824329
hg1924329
hg1824329
hg1724329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1349
Supporting Variants
SamplesNA12156
Known GenesHEATR4
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)nssv6600
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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