A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612



Internal ID15550997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12631867..12659020hg38UCSC Ensembl
Outerchr12:12784801..12811954hg19UCSC Ensembl
Outerchr12:12676068..12703221hg18UCSC Ensembl
Outerchr12:12676068..12703221hg17UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg384932
hg194932
hg184932
hg174932
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10851, nssv4012
SamplesNA12878, NA18956
Known GenesCREBL2
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)nsv612
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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