A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9277



Internal ID15193542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9456707..9584625hg38UCSC Ensembl
Outerchr12:9609303..9737221hg19UCSC Ensembl
Outerchr12:9500570..9628488hg18UCSC Ensembl
Outerchr12:9500570..9628488hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38127919
hg19127919
hg18127919
hg17127919
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv602
Supporting Variants
SamplesNA18517
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)nssv9277
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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