A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv704



Internal ID8518991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51216256..51250403hg38UCSC Ensembl
Outerchr12:51610040..51644187hg19UCSC Ensembl
Outerchr12:49896307..49930454hg18UCSC Ensembl
Outerchr12:49896307..49930454hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg385599
hg195599
hg185599
hg175599
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4023
SamplesNA12878
Known GenesDAZAP2, POU6F1, SMAGP
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)nsv704
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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