A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2530



Internal ID15547093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50553250..50598417hg38UCSC Ensembl
Outerchr19:51056507..51101674hg19UCSC Ensembl
Outerchr19:55748319..55793486hg18UCSC Ensembl
Outerchr19:55748319..55793486hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3845168
hg1945168
hg1845168
hg1745168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7447
SamplesNA12156
Known GenesLRRC4B
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)nsv2530
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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