A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4082



Internal ID15548756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:159437370..159470346hg38UCSC Ensembl
Outerchr3:159155159..159188135hg19UCSC Ensembl
Outerchr3:160637853..160670829hg18UCSC Ensembl
Outerchr3:160637861..160670837hg17UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg386770
hg196770
hg186770
hg176770
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3209
SamplesNA12878
Known GenesIQCJ-SCHIP1, SCHIP1
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)nsv4082
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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