A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4243



Internal ID15538970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4235713..4268100hg38UCSC Ensembl
Outerchr17:4139008..4171395hg19UCSC Ensembl
Outerchr17:4085757..4118144hg18UCSC Ensembl
Outerchr17:4085757..4118144hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg387340
hg197340
hg187340
hg177340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1951
Supporting Variants
SamplesNA12878
Known GenesANKFY1
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)nssv4243
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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