A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3841



Internal ID15538568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236091580..236102118hg38UCSC Ensembl
Outerchr1:236254880..236265418hg19UCSC Ensembl
Outerchr1:234321503..234332041hg18UCSC Ensembl
Outerchr1:232580921..232591459hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg384777
hg194777
hg184777
hg174777
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4966
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)nssv3841
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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