A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4999



Internal ID15203078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236737299..236782223hg38UCSC Ensembl
Outerchr1:236900599..236945523hg19UCSC Ensembl
Outerchr1:234967222..235012146hg18UCSC Ensembl
Outerchr1:233226640..233271564hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3844925
hg1944925
hg1844925
hg1744925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1778
SamplesNA18555
Known GenesACTN2
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)nsv4999
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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