A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7461



Internal ID15536403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:6464046..6509162hg38UCSC Ensembl
Outerchr2:6604178..6649294hg19UCSC Ensembl
Outerchr2:6521629..6566745hg18UCSC Ensembl
Outerchr2:6554776..6599892hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3845117
hg1945117
hg1845117
hg1745117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2593
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)nssv7461
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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