A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7574



Internal ID15536290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:170583573..170628231hg38UCSC Ensembl
Outerchr2:171440083..171484741hg19UCSC Ensembl
Outerchr2:171148329..171192987hg18UCSC Ensembl
Outerchr2:171265590..171310248hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3844659
hg1944659
hg1844659
hg1744659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3029
Supporting Variants
SamplesNA12156
Known GenesMYO3B
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)nssv7574
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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