A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7561



Internal ID15536303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:148850829..148868006hg38UCSC Ensembl
Outerchr2:149608398..149625575hg19UCSC Ensembl
Outerchr2:149324868..149342045hg18UCSC Ensembl
Outerchr2:149442130..149459307hg17UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3817178
hg1917178
hg1817178
hg1717178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2962
Supporting Variants
SamplesNA12156
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)nssv7561
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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