A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2505



Internal ID15200382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:44207416..44241779hg38UCSC Ensembl
Outerchr19:44711569..44745932hg19UCSC Ensembl
Outerchr19:49403409..49437772hg18UCSC Ensembl
Outerchr19:49403409..49437772hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg386628
hg196628
hg186628
hg176628
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1456
SamplesNA19240
Known GenesZNF227
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)nsv2505
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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