A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5634



Internal ID15197118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4726245..4748889hg38UCSC Ensembl
Outerchr17:4629540..4652184hg19UCSC Ensembl
Outerchr17:4576289..4598933hg18UCSC Ensembl
Outerchr17:4576289..4598933hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3816641
hg1916641
hg1816641
hg1716641
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1952
Supporting Variants
SamplesNA19129
Known GenesCXCL16, MED11, ZMYND15
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)nssv5634
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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