A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5518



Internal ID15197259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88012390..88045100hg38UCSC Ensembl
Outerchr14:88478734..88511444hg19UCSC Ensembl
Outerchr14:87548487..87581197hg18UCSC Ensembl
Outerchr14:87548487..87581197hg17UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3832711
hg1932711
hg1832711
hg1732711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1389
Supporting Variants
SamplesNA19129
Known GenesGPR65, LINC01146
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)nssv5518
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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