A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3996



Internal ID15201975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:128942534..128992631hg38UCSC Ensembl
Outerchr3:128661377..128711474hg19UCSC Ensembl
Outerchr3:130144067..130194164hg18UCSC Ensembl
Outerchr3:130144075..130194172hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3850098
hg1950098
hg1850098
hg1750098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4666, nssv7863
SamplesNA12156, NA19129
Known GenesKIAA1257
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)nsv3996
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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