A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4463



Internal ID15539190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:135399139..135433342hg38UCSC Ensembl
Outerchr2:136156709..136190912hg19UCSC Ensembl
Outerchr2:135873179..135907382hg18UCSC Ensembl
Outerchr2:135990441..136024644hg17UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg385522
hg195522
hg185522
hg175522
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2941
Supporting Variants
SamplesNA12878
Known GenesZRANB3
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)nssv4463
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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