A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4044



Internal ID15192085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:99371304..99416935hg38UCSC Ensembl
Outerchr12:99765082..99810713hg19UCSC Ensembl
Outerchr12:98289213..98334844hg18UCSC Ensembl
Outerchr12:98267550..98313181hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3845632
hg1945632
hg1845632
hg1745632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv849
Supporting Variants
SamplesNA12878
Known GenesANKS1B
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)nssv4044
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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