A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2895



Internal ID15541662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:125633169..125667303hg38UCSC Ensembl
Outerchr12:126117715..126151849hg19UCSC Ensembl
Outerchr12:124683668..124717802hg18UCSC Ensembl
Outerchr12:124642595..124676729hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg385896
hg195896
hg185896
hg175896
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv919
Supporting Variants
SamplesNA18555
Known GenesTMEM132B
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)nssv2895
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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