A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv703



Internal ID15205312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51113427..51147916hg38UCSC Ensembl
Outerchr12:51507210..51541699hg19UCSC Ensembl
Outerchr12:49793477..49827966hg18UCSC Ensembl
Outerchr12:49793477..49827966hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg386504
hg196504
hg186504
hg176504
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1084
SamplesNA19240
Known GenesTFCP2
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)nsv703
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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