A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4261



Internal ID15192302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:35905026..35932726hg38UCSC Ensembl
Outerchr17:34232030..34259730hg19UCSC Ensembl
Outerchr17:31256143..31283843hg18UCSC Ensembl
Outerchr17:31256143..31283843hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3812048
hg1912048
hg1812048
hg1712048
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2039
Supporting Variants
SamplesNA12878
Known GenesRDM1
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)nssv4261
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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