A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3361



Internal ID15538089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149710830..149755073hg38UCSC Ensembl
Outerchr1:149682377..149726623hg19UCSC Ensembl
Outerchr1:147949001..147993247hg18UCSC Ensembl
Outerchr1:146495450..146539696hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3844244
hg1944247
hg1844247
hg1744247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2777
Supporting Variants
SamplesNA12878
Known Genes
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)nssv3361
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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