A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4383



Internal ID15539110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1202029..1224760hg38UCSC Ensembl
Outerchr2:1197715..1228530hg19UCSC Ensembl
Outerchr2:1187715..1211081hg18UCSC Ensembl
Outerchr2:1187715..1211081hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg384872
hg194872
hg184872
hg174872
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2565
Supporting Variants
SamplesNA12878
Known GenesSNTG2
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)nssv4383
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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