A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3061



Internal ID15547633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:179192467..179230991hg38UCSC Ensembl
Outerchr2:180057194..180095718hg19UCSC Ensembl
Outerchr2:179765439..179803963hg18UCSC Ensembl
Outerchr2:179882700..179921224hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3838525
hg1938525
hg1838525
hg1738525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9357, nssv4483, nssv9583, nssv6889, nssv5838, nssv1558
SamplesNA18507, NA12156, NA12878, NA18517, NA19240, NA19129
Known GenesSESTD1
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)nsv3061
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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