A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7607



Internal ID15536257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:209067656..209099995hg38UCSC Ensembl
Outerchr2:209932380..209964719hg19UCSC Ensembl
Outerchr2:209640625..209672964hg18UCSC Ensembl
Outerchr2:209757886..209790225hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3832340
hg1932340
hg1832340
hg1732340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3139
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)nssv7607
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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