A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1504



Internal ID15544196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:74040953..74073736hg38UCSC Ensembl
Outerchr2:74268080..74300863hg19UCSC Ensembl
Outerchr2:74121588..74154371hg18UCSC Ensembl
Outerchr2:74179735..74212518hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg388216
hg198216
hg188216
hg178216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2782
Supporting Variants
SamplesNA19240
Known GenesTET3
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)nssv1504
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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