A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2754



Internal ID15200631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:64521910..64551323hg38UCSC Ensembl
Outerchr2:64749044..64778457hg19UCSC Ensembl
Outerchr2:64602548..64631961hg18UCSC Ensembl
Outerchr2:64660695..64690108hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg387674
hg197674
hg187674
hg177674
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7501
SamplesNA12156
Known GenesAFTPH, MIR4434
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)nsv2754
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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