A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv321



Internal ID15545043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:125946515..125993155hg38UCSC Ensembl
Outerchr3:125665358..125711998hg19UCSC Ensembl
Outerchr3:127148048..127194688hg18UCSC Ensembl
Outerchr3:127148056..127194696hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3846641
hg1946641
hg1846641
hg1746641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3984
Supporting Variants
SamplesNA19240
Known GenesROPN1B
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)nssv321
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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