A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1215



Internal ID15199092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23134948..23167798hg38UCSC Ensembl
Outerchr14:23604157..23637007hg19UCSC Ensembl
Outerchr14:22673997..22706847hg18UCSC Ensembl
Outerchr14:22673997..22706847hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg387159
hg197159
hg187159
hg177159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2063
SamplesNA18555
Known GenesSLC7A8
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)nsv1215
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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