A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3039



Internal ID15194250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:179829840..179862749hg38UCSC Ensembl
Outerchr2:180694567..180727476hg19UCSC Ensembl
Outerchr2:180402812..180435721hg18UCSC Ensembl
Outerchr2:180520073..180552982hg17UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg386066
hg196066
hg186066
hg176066
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3062
Supporting Variants
SamplesNA18555
Known GenesMIR1258, ZNF385B
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)nssv3039
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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