A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4212



Internal ID8515881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6256839..6290304hg38UCSC Ensembl
Outerchr4:6258566..6292031hg19UCSC Ensembl
Outerchr4:6309467..6342932hg18UCSC Ensembl
Outerchr4:6376638..6410103hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg386286
hg196286
hg186286
hg176286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3231
SamplesNA12878
Known GenesWFS1
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)nsv4212
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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