A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2304



Internal ID15540666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:175475415..175500498hg38UCSC Ensembl
Outerchr2:176340143..176365226hg19UCSC Ensembl
Outerchr2:176048389..176073472hg18UCSC Ensembl
Outerchr2:176165650..176190733hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3825084
hg1925084
hg1825084
hg1725084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3046
Supporting Variants
SamplesNA18555
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)nssv2304
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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