A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3055



Internal ID15547626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177935711..177954911hg38UCSC Ensembl
Outerchr2:178800438..178819638hg19UCSC Ensembl
Outerchr2:178508684..178527884hg18UCSC Ensembl
Outerchr2:178625945..178645145hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3819201
hg1919201
hg1819201
hg1719201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7586
SamplesNA12156
Known GenesPDE11A
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)nsv3055
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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