A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3007



Internal ID15200887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:161631974..161676845hg38UCSC Ensembl
Outerchr2:162488484..162533355hg19UCSC Ensembl
Outerchr2:162196730..162241601hg18UCSC Ensembl
Outerchr2:162313991..162358862hg17UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3844872
hg1944872
hg1844872
hg1744872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7570
SamplesNA12156
Known GenesSLC4A10
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)nsv3007
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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