A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4743



Internal ID15202797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:18376101..18421316hg38UCSC Ensembl
Outerchr1:18702595..18747810hg19UCSC Ensembl
Outerchr1:18575182..18620397hg18UCSC Ensembl
Outerchr1:18447901..18493116hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3845216
hg1945216
hg1845216
hg1745216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8453
SamplesNA12156
Known GenesIGSF21
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)nsv4743
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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