A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7554



Internal ID15189624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130841963..130864283hg38UCSC Ensembl
Outerchr2:131599536..131621856hg19UCSC Ensembl
Outerchr2:131316006..131338326hg18UCSC Ensembl
Outerchr2:131433268..131455588hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3822321
hg1922321
hg1822321
hg1722321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2925
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)nssv7554
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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