A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3540



Internal ID15191582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:178851240..178868499hg38UCSC Ensembl
Outerchr1:178820375..178837634hg19UCSC Ensembl
Outerchr1:177086998..177104257hg18UCSC Ensembl
Outerchr1:175552032..175569291hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg385015
hg195015
hg185015
hg175015
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3710
Supporting Variants
SamplesNA12878
Known GenesANGPTL1, RALGPS2
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)nssv3540
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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