A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3051



Internal ID15540924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237148170..237182642hg38UCSC Ensembl
Outerchr2:238056813..238091285hg19UCSC Ensembl
Outerchr2:237721552..237756024hg18UCSC Ensembl
Outerchr2:237838813..237873285hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385558
hg195558
hg185558
hg175558
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225
Supporting Variants
SamplesNA18555
Known Genes
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)nssv3051
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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