A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3807



Internal ID15201767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47558395..47607814hg38UCSC Ensembl
Outerchr3:47599885..47649304hg19UCSC Ensembl
Outerchr3:47574889..47624308hg18UCSC Ensembl
Outerchr3:47574889..47624308hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg386608
hg196608
hg186608
hg176608
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676, nssv5963
SamplesNA19240, NA19129
Known GenesCSPG5, SMARCC1
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)nsv3807
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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