A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1383



Internal ID15545946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:84811155..84863903hg38UCSC Ensembl
Outerchr14:85277499..85330247hg19UCSC Ensembl
Outerchr14:84347252..84400000hg18UCSC Ensembl
Outerchr14:84347252..84400000hg17UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3852749
hg1952749
hg1852749
hg1752749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6606, nssv2084
SamplesNA12156, NA18555
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)nsv1383
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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