A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3044



Internal ID15200928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:175164750..175210063hg38UCSC Ensembl
Outerchr2:176029478..176074791hg19UCSC Ensembl
Outerchr2:175737724..175783037hg18UCSC Ensembl
Outerchr2:175854985..175900298hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3845314
hg1945314
hg1845314
hg1745314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7582
SamplesNA12156
Known GenesATF2, ATP5G3, MIR933
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)nsv3044
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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