A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6901



Internal ID15536962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:216203646..216249766hg38UCSC Ensembl
Outerchr2:217068369..217114489hg19UCSC Ensembl
Outerchr2:216776614..216822734hg18UCSC Ensembl
Outerchr2:216893875..216939995hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3846121
hg1946121
hg1846121
hg1746121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3159
Supporting Variants
SamplesNA12156
Known GenesPKI55, XRCC5
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)nssv6901
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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