A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2700



Internal ID15547263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:40440321..40485665hg38UCSC Ensembl
Outerchr2:40667461..40712805hg19UCSC Ensembl
Outerchr2:40520965..40566309hg18UCSC Ensembl
Outerchr2:40579112..40624456hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3845345
hg1945345
hg1845345
hg1745345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6833
SamplesNA12156
Known GenesSLC8A1
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)nsv2700
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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