A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1513



Internal ID15544187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:88800608..88986707hg38UCSC Ensembl
Outerchr2:89100125..89286226hg19UCSC Ensembl
Outerchr2:88881240..89067341hg18UCSC Ensembl
Outerchr2:88939387..89125488hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38186100
hg19186102
hg18186102
hg17186102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2824
Supporting Variants
SamplesNA19240
Known GenesANKRD36BP2, MIR4436A
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)nssv1513
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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