A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5677



Internal ID15543751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77210615..77224039hg38UCSC Ensembl
Outerchr17:75206697..75220121hg19UCSC Ensembl
Outerchr17:72718292..72731716hg18UCSC Ensembl
Outerchr17:72718292..72731716hg17UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg3815433
hg1915433
hg1815433
hg1715433
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2148
Supporting Variants
SamplesNA19129
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)nssv5677
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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