A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4397



Internal ID15539124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:9788969..9802344hg38UCSC Ensembl
Outerchr2:9929098..9942473hg19UCSC Ensembl
Outerchr2:9846549..9859924hg18UCSC Ensembl
Outerchr2:9879696..9893071hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg388260
hg198260
hg188260
hg178260
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2604
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)nssv4397
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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