A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3743



Internal ID15201697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16573004..16619126hg38UCSC Ensembl
Outerchr1:16899499..16945621hg19UCSC Ensembl
Outerchr1:16772086..16818208hg18UCSC Ensembl
Outerchr1:16644805..16690927hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3846123
hg1946123
hg1846123
hg1746123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv835, nssv3842
SamplesNA12878, NA19240
Known GenesCROCCP2, NBPF1
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)nsv3743
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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