A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4698



Internal ID15202747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:223770507..223787519hg38UCSC Ensembl
Outerchr1:223958209..223975221hg19UCSC Ensembl
Outerchr1:222024832..222041844hg18UCSC Ensembl
Outerchr1:220264944..220281956hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385778
hg195778
hg185778
hg175778
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3790
SamplesNA12878
Known GenesCAPN2, TP53BP2
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)nsv4698
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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