A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2512



Internal ID15200389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47034954..47066862hg38UCSC Ensembl
Outerchr19:47538212..47570119hg19UCSC Ensembl
Outerchr19:52230052..52261959hg18UCSC Ensembl
Outerchr19:52230052..52261959hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg387590
hg197590
hg187590
hg177590
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10191
SamplesNA18956
Known GenesNPAS1, TMEM160, ZC3H4
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)nsv2512
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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