A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3667



Internal ID15191709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:204556130..204591235hg38UCSC Ensembl
Outerchr1:204525258..204560363hg19UCSC Ensembl
Outerchr1:202791881..202826986hg18UCSC Ensembl
Outerchr1:201256915..201292020hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384642
hg194642
hg184642
hg174642
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4154
Supporting Variants
SamplesNA12878
Known GenesMDM4
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)nssv3667
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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