A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2777



Internal ID15547340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149710830..149769091hg38UCSC Ensembl
Outerchr1:149682377..149740643hg19UCSC Ensembl
Outerchr1:147949001..148007267hg18UCSC Ensembl
Outerchr1:146495450..146553716hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3858262
hg1958267
hg1858267
hg1758267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3361, nssv2514
SamplesNA12878, NA18555
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)nsv2777
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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