A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2888



Internal ID15194984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:85949715..85983671hg38UCSC Ensembl
Outerchr12:86343494..86377449hg19UCSC Ensembl
Outerchr12:84867625..84901580hg18UCSC Ensembl
Outerchr12:84845962..84879917hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg386072
hg196072
hg186072
hg176072
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv797
Supporting Variants
SamplesNA18555
Known GenesMGAT4C
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)nssv2888
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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