A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2925



Internal ID15200802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130841107..130887218hg38UCSC Ensembl
Outerchr2:131598680..131644791hg19UCSC Ensembl
Outerchr2:131315150..131361261hg18UCSC Ensembl
Outerchr2:131432412..131478523hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3846112
hg1946112
hg1846112
hg1746112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5818, nssv1537, nssv2294, nssv7554
SamplesNA12156, NA18555, NA19240, NA19129
Known Genes
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)nsv2925
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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