A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv910292



Internal ID6272219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:782854..1699146hg19UCSC Ensembl
Outerchr19:776648..1707526hg19UCSC Ensembl
Innerchr19:733854..1650146hg18UCSC Ensembl
Outerchr19:727648..1658526hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1595439
SamplesIS40230
Known GenesABCA7, ADAMTSL5, APC2, ARID3A, ATP5D, AZU1, C19orf22, C19orf23, C19orf24, C19orf25, C19orf26, C19orf6, CFD, CIRBP, CNN2, DAZAP1, EFNA2, ELANE, GAMT, GPX4, GRIN3B, HMHA1, KISS1R, LPPR3, MBD3, MED16, MEX3D, MIDN, MIR3187, MIR4745, MUM1, NDUFS7, PCSK4, PLK5, POLR2E, PRTN3, PTBP1, REEP6, RPS15, SBNO2, STK11, TCF3, UQCR11, WDR18
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv910292
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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