A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7299



Internal ID15189879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1720431..1750747hg38UCSC Ensembl
Outerchr17:1623725..1654041hg19UCSC Ensembl
Outerchr17:1570475..1600791hg18UCSC Ensembl
Outerchr17:1570475..1600791hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg387182
hg197182
hg187182
hg177182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1946
Supporting Variants
SamplesNA12156
Known GenesSERPINF2, WDR81
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)nssv7299
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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