A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4295



Internal ID15192336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82212292..82238972hg38UCSC Ensembl
Outerchr17:80170168..80196848hg19UCSC Ensembl
Outerchr17:77763457..77790137hg18UCSC Ensembl
Outerchr17:77763457..77790137hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3810234
hg1910234
hg1810234
hg1710234
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2166
Supporting Variants
SamplesNA12878
Known GenesCCDC57, MIR6787, SLC16A3
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)nssv4295
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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