A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv725



Internal ID15205554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:57572766..57600025hg38UCSC Ensembl
Outerchr12:57966549..57993808hg19UCSC Ensembl
Outerchr12:56252816..56280075hg18UCSC Ensembl
Outerchr12:56252816..56280075hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3827260
hg1927260
hg1827260
hg1727260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4628
SamplesNA19129
Known GenesKIF5A, PIP4K2C
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)nsv725
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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