A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3946



Internal ID15201920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:111517188..111564191hg38UCSC Ensembl
Outerchr3:111236035..111283038hg19UCSC Ensembl
Outerchr3:112718725..112765728hg18UCSC Ensembl
Outerchr3:112718725..112765728hg17UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg3847004
hg1947004
hg1847004
hg1747004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv317, nssv7020
SamplesNA12156, NA19240
Known GenesCD96
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)nsv3946
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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