A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1220



Internal ID15545783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:24181561..24196767hg38UCSC Ensembl
Outerchr14:24650767..24665973hg19UCSC Ensembl
Outerchr14:23720607..23735813hg18UCSC Ensembl
Outerchr14:23720607..23735813hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3829511
hg1929511
hg1829511
hg1729511
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1184, nssv4104
SamplesNA12878, NA19240
Known GenesIPO4, TM9SF1
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)nsv1220
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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