A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2148



Internal ID15546711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77210615..77228086hg38UCSC Ensembl
Outerchr17:75206697..75224168hg19UCSC Ensembl
Outerchr17:72718292..72735763hg18UCSC Ensembl
Outerchr17:72718292..72735763hg17UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg3818926
hg1918926
hg1818926
hg1718926
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9327, nssv5677
SamplesNA18517, NA19129
Known GenesSEC14L1
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)nsv2148
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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