A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3041



Internal ID15200925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:174556013..174576388hg38UCSC Ensembl
Outerchr2:175420741..175441116hg19UCSC Ensembl
Outerchr2:175128987..175149362hg18UCSC Ensembl
Outerchr2:175246248..175266623hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385996
hg195996
hg185996
hg175996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7581
SamplesNA12156
Known GenesWIPF1
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)nsv3041
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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