A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834543



Internal ID6160267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:220091120..220281152hg19UCSC Ensembl
Outerchr2:219799364..219989396hg18UCSC Ensembl
Outerchr2:219916625..220106657hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1442555
Samples
Known GenesANKZF1, ATG9A, DNAJB2, DNPEP, GLB1L, MIR153-1, PTPRN, RESP18, STK16, TUBA4A, TUBA4B
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv834543
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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