A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4501



Internal ID15539228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:209062551..209090466hg38UCSC Ensembl
Outerchr2:209927275..209955190hg19UCSC Ensembl
Outerchr2:209635520..209663435hg18UCSC Ensembl
Outerchr2:209752781..209780696hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3827916
hg1927916
hg1827916
hg1727916
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3139
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)nssv4501
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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