A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4180



Internal ID15548864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194740521..194785196hg38UCSC Ensembl
Outerchr3:194461250..194505925hg19UCSC Ensembl
Outerchr3:195942539..195987214hg18UCSC Ensembl
Outerchr3:195942547..195987222hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3844676
hg1944676
hg1844676
hg1744676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7911
SamplesNA12156
Known GenesLOC100507391
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)nsv4180
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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