A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2885



Internal ID15194987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:53125777..53160107hg38UCSC Ensembl
Outerchr12:53519561..53553891hg19UCSC Ensembl
Outerchr12:51805828..51840158hg18UCSC Ensembl
Outerchr12:51805828..51840158hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg385692
hg195692
hg185692
hg175692
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv713
Supporting Variants
SamplesNA18555
Known GenesCSAD
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)nssv2885
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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