A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1501



Internal ID15197514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:71108462..71145252hg38UCSC Ensembl
Outerchr2:71335592..71372382hg19UCSC Ensembl
Outerchr2:71189100..71225890hg18UCSC Ensembl
Outerchr2:71247247..71284037hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3836791
hg1936791
hg1836791
hg1736791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2771
Supporting Variants
SamplesNA19240
Known GenesMCEE, MPHOSPH10
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)nssv1501
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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