A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4010



Internal ID15192051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9464101..9588023hg38UCSC Ensembl
Outerchr12:9616697..9740619hg19UCSC Ensembl
Outerchr12:9507964..9631886hg18UCSC Ensembl
Outerchr12:9507964..9631886hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38123923
hg19123923
hg18123923
hg17123923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv602
Supporting Variants
SamplesNA12878
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)nssv4010
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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