A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1269



Internal ID15199146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:49744305..49780153hg38UCSC Ensembl
Outerchr14:50211023..50246871hg19UCSC Ensembl
Outerchr14:49280773..49316621hg18UCSC Ensembl
Outerchr14:49280773..49316621hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg386755
hg196755
hg186755
hg176755
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9956, nssv2071, nssv4110, nssv1190, nssv5500
SamplesNA18507, NA12878, NA18555, NA19240, NA19129
Known GenesKLHDC1, KLHDC2
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)nsv1269
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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